Dr. F. Klinefelter Summary

Dr. F. Klinefelter Summary
Dr. F. Albright and Dr. H. F. Klinefelter were two endocrinologists working at Boston Massachusetts General Hospital in 1942 that were examining
nine adult males that ranged in age from 17 to 38. They were all experiencing common symptoms that were unusual to say the least. These symptoms
seemed to manifest during their adolescent years and they were described as having bilateral gynecomastia, unusually small testicles,
aspermatatogensis, increased follicle stimulating hormone levels or FSH and decreased 17–ketosteriod levels. (Visootsak, Aylstock, & Graham, 2001,
p.2) Dr. Albright discussed and encouraged Dr. Klinefelter to gather information and organize a case study involving all nine men to help determine the
underlying cause of why... Show more content on Helpwriting.net ...
Dr. Klinefelter's hypothesis was that decreased levels of inhibin or the absence of inhibin the feedback inhibition of pituitary gonadotropins could not
occur which was causing the follicle stimulating hormone or FSH levels to increase. It was 14 years later before Dr. Klinefelter's hypothesis was
confirmed in 1956 by Dr. Joe Hin Tjio and his peer Dr. Albert Lavan. Within their research, they discovered other factors that came into play in the men
that had Klinefelter's Syndrome and it was this discovery that made them different from what we consider normal males. Dr. Tjio and Dr. Lavan found
that using buccal mucosal cells that humans had 23 sets of chromosomes which accounted for 46 chromosomes in the men's bodies. This was different
than the original thought of the men having 48 chromosomes. It was their discovery of cytogenetics that led the doctors to uncover the fact that the
men with Klinefelter's syndrome had an extra sex chromosome which made the total of chromosomes these men had 47 instead of
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Turner syndrome Essay
There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs
or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or
chromosomal abnormalities. The Turner Syndrome (known as Ullrich–Turner Syndrome in Germany) is a congenital disease. A German doctor named
Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise
normal females. He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due
... Show more content on Helpwriting.net ...
If not present at birth, it does not develop later in life. The lack of sexual development at puberty is the second most common characteristic. Having
abnormal chromosomes does not mean that girls with Turner syndrome are not really female; they are women with a condition that causes short stature
and poorly developed ovaries.
Affected females may also exhibit the following symptoms: infertility, kidney abnormalities, thyroid disease, heart disease, abnormalities of the eyes
and bones, webbed neck, low hairline, drooping of eyelids, abnormal bone development, absent or retarded development of physical features that
normally appear at puberty, decrease of tears when crying, simian crease (a single crease in the palm), a "caved–in" appearance to the
chest, puffy hands and feet, unusual shape and rotation of ears, soft upturned nails, small lower jaw, arms turned out slightly at elbows, shortened 4th
fingers, small brown moles, hearing loss, scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46
chromosomes, of which the two sex chromosomes are X–chromosomes. This is expressed as 46,XX (men: 46,XY). In many women with Turner
syndrome, one of the X–chromosomes lacks completely, and the chromosome pattern then becomes 45,X. The X–chromosome in women is the carrier
of genes related to production of ovaries and female sex hormones, and to growth in height. Girls with
Turner

Klinefelter's Syndrome
Klinefelter's Syndrome is a genetic disorder that only affects men. Those affected are born with an extra X chromosome (Belts & Frey, 2006). In
1942, Dr. Harry Klinefelter released a study concerning nine men who had little to no facial hair, enlarged breasts, small testicles, and were unable
to produce sperm. The name of this syndrome originated from Dr. Klinefelter's name (Kenny & Henderson, 2015). This disease is often abbreviated as
KS or referred to as 47 XXY. It is referred to as 47 XXY because of the extrachromosome in patients (Schoenstadt, 2016).
Dr. Klinefelter first identified Klinefelter's syndrome in 1942, and by the late 1950s, doctors were able to identify men with Klinefelter's. Doctors
discovered that rather than the ordinary ... Show more content on Helpwriting.net ...
Different types of therapies include: physical therapy, speech therapy and testosterone replacement therapy. In testosterone replacement therapy,
patients are given a dosage of testosterone to help with their bone density and to reduce the chance of breast tissue growth (Klinefelter Syndrome, n.d.).
Testosterone replacement therapy begins around the age of 12. As the patient ages, the dosage of testosterone is increased to help maintain normal
testosterone levels in the blood cells (Klinefelter Syndrome Prevention and Treatment, 2014.). Being that those with Klinefelter's can have
developmental issues, physical and speech therapy can help to develop stronger muscles in the body and help overcome speech and language issues
(Mayo Clinic Staff, 2016). Other treatments include; breast reduction therapy, special help in the education field, fertility treatments, and psychological
counseling (Mayo Clinic Staff, 2016; Klinefelter Syndrome, 2007). In situations where the child with KS has learning disabilities, the school should
converse with the child's parent to help develop an individualized education plans (Klinefelter Syndrome Prevention and Treatment, 2014). Fertility
treatments can be complex, as many of those with KS are unable to father children, because of low sperm count produced in the testes. For the men
who can produce a minimal amount of sperm, a procedure called intracytoplasmic sperm

Genetically Inherited Diseases
Introduction:
Chromosomes are long structures that are made up of DNA and proteins called histones. They are found in the Chromatin material in the nucleus and
mitochondira. During the process "Crossing over" where there is the mutual exchange of genes in the pieces of chromosomes that causes variation in
offspring, however this is where mutations commonly occur. If a parent has either a faulty gene or a missing gene, the child is usually at high risk of
being diagnosed with the disorder or may be a carrier.
Definition of a genetically inherited disease:
"A genetic disease or disorder is the result of changes, or mutations, in an individual's DNA. A mutation is a change in the DNA sequence that make up
a gene" When a gene is mutated or is not present, its protein product can no longer carry out its normal function, and thus disorder or genetically
inherited disease can occur.
ADRENOLEUKODYSTROPHY (ADL)
Description:
Adrenoleukodystrophy (also known as X–linked adrenoleukodystrophy, ALD, X–ALD, adrenomyeloneuropathy, Siemerling–Creutzfeldt disease, or
Bronze Schilder disease) is a progressive type of a genetically inherited disease that can cause damage to the myelin sheath, spinal cord and white
matter in the central nervous system. When affected with ADL your body cannot break down very long–chain fatty acids (VLCFA), causing high
levels of saturated VLCFA's to build up in the brain, nervous system, adrenal glands and Leydig cells in the testes.
The childhood

The Sex Chromosome ( X And Y ) Originates From A Pair Of...
INTRODUCTION:
The Sex chromosome(X and Y) originates from a pair of autosomes (H.J. Muller, 1914) about 350million years ago in reptile–like ancestors
(Charlesworth, 1991; Graves, 1995). Environmental factor like temperature determines sex in some species e.g. crocodiles and turtles (Bull et al,
1975). In humans, there are 22 pairs of chromosomes called the Autosomes and one pair of sex chromosome (X–Y) which makes a total of 23pairs of
chromosomes. These 23pairs (46) chromosomes are contributed by female and male gamete. Females have 22pairs of autosomes and one sex
chromosome (X) while males have Y sex chromosome in addition to the 22pairs of autosomes. This means that, the Y chromosome can only be
inherited paternally (Lahn & Page, 1999).
The X–chromosome is about a 165mega base in size and contains about 1000 functional genes (Ross et al, 2005) while Y chromosome is about
65mega base in size with about 178genes (Skalestsky et al; 2003).The Mammalian Y–chromosome contains 86 genes which code for specific proteins
with peculiar functions in sex fertility (Lahn & Page, 1997). The Y chromosome is the most evolving part of the human and chimpanzee genome. ''The
Y chromosome is far superior in the evolutionary progress than the entire human genetic code combined'' (Dr Page, 2001). The Y chromosome is said
to be the smallest chromosome in humans and contain more genes with mutation (Heinkchen, 2005).
"The Primitive Y chromosome was found in Papaya" (Liu et al, 2004) and the Y

Klinefelter's Syndrome Research Paper
Klinefelter syndrome is a common genetic condition affecting men that causes various complications to the male body and brain. Caused by a
variation during meiosis, this then grows to a large complication through a patient's life. The symptoms of this disorder are varied and hard to
diagnose, leading to many cases left undiagnosed. Klinefelter syndrome is a genetic disorder caused by an additional x chromosome in men, affecting
their sexual development and leading to learning disabilities.
Klinefelter syndrome is a genetic disorder caused by an extra X chromosome that leads to disabilities in men and has a complex cause. This
syndrome is caused when a male has an additional X chromosome with the regular X and Y chromosomes. Klinefelter syndrome occurs by a
process called nondisjunction. This condition occurs by a process called nondisjunction. When chromosomes are wrongly allocated into the sperm of
egg, it is known as nondisjunction. Nondisjunction is when, during egg or sperm formation(meiosis), a pair of sex chromosomes does not separate.
When that sperm or egg with the extra X chromosome is joined with a normal egg or sperm, the zygote made by the two will have 3 sex
chromosomes instead of the usual two. This zygote is then said to have a trisomy, which is simply a zygote with 3 copies of a chromosome, as such in
Klinefelter's syndrome. On the other hand, a monosomy is a zygote which is missing a chromosome. Usually, when trisomy and monosomy happens in
a non–sex chromosome, (autosomal), it is lethal, ... Show more content on Helpwriting.net ...
It is important to have a understanding about different genetic disorders so that our community as a whole can begin to have more respect and
courtesy to those who have these syndromes. If we all could relate and cultivate a mutual appreciation for everyone, no matter their differences, the
world would be a better

Klinefelter Syndrome Research Paper
"[Twenty–five] Important Klinefelter Syndrome Statistics. Klinefelter syndrome [KS] is a genetic chromosomal condition that affects only men."
(healthsearch funding.org.) Klinefelter Syndrome causes changes to their cognitive and physical development.The Klinefelter syndrome affects a lot
of sex characteristics the origin of this syndromes discovery was in 1442 by a doctor named Harry Klinefelter and his co–workers when they first
described the features that is known as Klinefelter Syndrome. Klinefelter syndromes symptoms are diagnosed according to what causes Klinefelter
syndrome. The syndrome is not inherited it is a random mutation. Doctors after diagnosis, will prescribe/suggest treatment that will not get rid of the
syndrome. Klinefelter syndrome is generally found in any age of the male sex.
Origin of Discovery
In 1442 a ... Show more content on Helpwriting.net ...
Most men with this condition produce little or no sperm. Men with this syndrome also have low testosterone and reduced muscle mass, facial hair, and
body hair. It affects all sex characteristics of a male's body. It affects the characteristics that a man without klinefelter syndrome should have.
Causes
What klinefelter syndrome? Klinefelter syndrome is a random mutation that happens during the sex cells reproduction. It's caused one extra copy of the
X chromosome in each cell (xxy), the most common cause. An extra x chromosome in some of the cells (mosaic klinefelter syndrome), with fewer
symptoms. More than one extra copy of the chromosome, which is rare and results in a severe form. Error in cell division, called nondisjunction,
results in a egg or sperm cell with extra x chromosome mosaic klinefelter syndrome is caused by random mutation during fetal development.
How it's

Essay about Genetics The Inheritance of Color Blindness...
Virtual Genetics Lab: The Inheritance of Color Blindness Worksheet
Learning Goal: To explore the inheritance pattern of color blindness in humans.
Prerequisite Knowledge: Before beginning this lab, you should be familiar with these concepts: the definition of sex–linked genes, and examples of
sex–linked genes in humans and other organisms how the inheritance pattern of sex–linked genes differs from that of autosomal genes the use of
Punnett squares to understand patterns of inheritance
Introduction: The gene that codes for red–green color blindness, the most common form of color blindness in humans, is found on the X chromosome.
One in 12 males is color blind. In females, however, color blindness affects only about 1 in 200. Why is ... Show more content on Helpwriting.net ...
4. Click the Reset button at the bottom. Then, choose Color Blindness again and set the parents' alleles according to the information about Couple 2.
5. Again, set the number of offspring to the maximum of 6. Then, click the Cross button repeatedly until these parents have produced about 100 F1
offspring.
What percentage of Couple 2's male and female offspring will be color blind?
The percentage of male offspring that will be colorblind is 10%.
The percentage of female offspring that will be colorblind is 0%.
Part C
Couple 3 comes into your office. The husband is color blind; the wife is heterozygous for the color–blindness allele.
6. Click the Reset button at the bottom. Then, choose Color Blindness again and set the parents' alleles according to the information about Couple 3.
7. Again, set the number of offspring to the maximum of 6. Then, click the Cross button repeatedly until these parents have produced about 100 F1
offspring.
What percentage of Couple 3's male and female offspring will be color blind?
The percentage of male offspring that will be colorblind is 22%.
The percentage of female offspring that will be colorblind is 19%.

Part D
Review the results you obtained for the female offspring of the three couples.
Based on your results for the female offspring, predict whether color blindness is a dominant or recessive trait. Explain your reasoning.
Color blindness in female is a

Klinefelter Syndrome Research Paper
Klinefelter Syndrome
Every year, approximately 3000 babies in America are born with Klinefelter Syndrome. Klinefelter syndrome, a genetic disorder known as XXY, is the
most common sex chromosome disorder. Klinefelter occurs when the presence of at least one extra X chromosome is in each of the cells. Because
chromosomes, contains all the genes and DNA, are building blocks of humans bodies, they are extremely crucial in determining the structure and traits
of each individuals. Besides the physical changes that Klinefelter patients experience, the mentally impact they have to deal with daily is equally
challenging.Klinefelter Syndrome causes many complex changes in the humans' genes, severe effects as well as complications not only on the
patients' physical bodies, but also on their mental health through dt age groups ; however, due to many advances in the medical fields, doctors are now
able to use different effective methods to treat those who have this disease.
Klinefelter syndrome, like many other diseases, is named after the doctor who discovered and described it in 1942. Harry Klinefelter Jr. was an
American rheumatologist and endocrinologist in Baltimore, working with Fuller Albright ... Show more content on Helpwriting.net ...
Doctors refer this process as nondisjunction. During nondisjunction, when a pair of sex chromosomes fails to split during the egg (or sperm)
formation, the egg that carries an additional X chromosomes will then combine with a normal sperm. As a result, the developed embryo will end up
having three sex chromosomes, two X's and one Y, instead of XY, the normal two. With the affected baby development, the extrachromosome will be
copied to the rest of the cells. The chances of nondisjunction occurring in either the mother's egg or the father's sperm is equally. Half of the time, the
error occurs in the egg development, and the remainder are due to errors in sperm

Turner's Syndrome Research Paper
When observing the female body, one can see that she has two chromosomes. A normal female has 46 chromosomes in totality. These chromosomes
typically are two pairs of X's or one pair of Y and X chromosomes. According to the U.S. National Library of Medicine, a chromosome is defined as
"The DNA molecule packaged into thread–like structures." These chromosomes are located in the nucleus of each cell. Turner syndrome occurs when
an X chromosome is completely or partially lost. When a male and female procreate, a mistake occurs with the formation of the egg and sperm. This
leads to a cell withholding a sex chromosome to the embryo and thus, one chromosome is nonexistent. An error can take place with either the mother's
eggs or the father's sperm. ... Show more content on Helpwriting.net ...
There are no immunizations for this disease, however, there is a surplus of therapy treatments for patients. Behavioral therapy is implemented to help
with learning and social disabilities. Due to slow growth, sufferers are sometimes given a human growth hormone. This therapy is used to assist with
sexual development and height issues. in order to work, this hormone has to be administered 3 times a week. Estrogen therapy is given for sexual
maturity, menstruation, prevention of osteoporosis, and proper bone structures. Due to infertility, a patient can also be given fertility treatments such
as In vitro. Immunoglobulin replacement therapy and prophylactic antibiotics and are given as well. There are no known integrative therapies or
natural remedies. These treatments help lessen the complications that come with this

How The Staining Of The Centromere Sequences Using Fish
How the staining of the centromere sequences using FISH can be used to determine the sex of metaphase chromosomes and how immunostaining of
the synaptomenal complex of meiotic cells can show the stages involved in prophase.
Abstract
Fluorescence in situ hybridisation (FISH) and immunostaining are both processes that allow for specific features within a chromosome to be observed.
FISH is when a DNA probe that is fluorescently tagged complementary binds to a specific sequence in the chromosome, in this case, the sex
chromosome centromeres. Immunostaining is the process where a primary antibody specifically binds to a protein of interest, then a fluorescently
tagged secondary antibody complementary binds to the primary antibody, thus ... Show more content on Helpwriting.net ...
This is because X chromosomes display a red signal, whereas the Y chromosome presents a green signal. Therefore, since females have two X
chromosomes and males have a single X and Y chromosome, the sex of the cell donor can be identified (Moers & et al 1995).
Meiosis is a form of cell division that halves the amount of chromosomes in sexually reproducing organisms (Bernstein et al 2011) to form
gametes. In meiotic cell division, DNA replication is followed by two rounds of cell division to create four daughter cells, each with half the
amount of chromosomes as the parent. Meiosis is split into two round called Meiosis I and Meiosis II and each round of meiosis is made up of four
stages called prophase, metaphase, anaphase, and telophase. The longest, most complex stage of meiosis is Prophase I as it is split into 5 phases called
lepotene, zygotene, pachytene, diplotene, and diakinesis (Tworzydlo & et al 2016). In these stages of prophase, chromosome pairing, synaptomenal
complex formation, and recombination occur. The formation of the synaptomenal complex allows for the chromosomes to know if they have
successfully paired. This complex can be stained by SPC3 as it binds to the lateral elements of the synaptomenal complex. In this practical,
immunostaining process allows for it to be confirmed which proteins are associated with the meiotic chromosomes. This immunostaining process

What Is Xyy Syndrome?
Imagine being a kid, going to school and struggling a little more than everyone else. You're the tallest in your class, and different than your friends.
You can't pronounce words as well as they can, and they can't really understand you. You have to have special classes to help with your learning
disabilities. These things describe XYY Syndrome, also known as 47, XYY Syndrome; Jacob's Syndrome; XYY Karyotype; and YY Syndrome.
(NORD). It is a genetic disease in which males have an extra Y chromosome due to an error in cell division.
Definition and effects on the body XYY Syndrome is a genetic disease where a male has an extra Y chromosome. This could then lead to an increased
risk of learning disabilities.(Genetics Home Reference). XYY Syndrome ... Show more content on Helpwriting.net ...
This symptom is usually more noticeable around the ages of five and six, with an average adulthood height of 6 feet, 3 inches. (NORD). Other
physical symptoms consist of hypotonia or weak muscle tone, delayed motor skills, hypogonadism or low testosterone levels, delayed or absent
puberty, and weak bones. (Healthline) On the other hand, males with XYY Syndrome have normal intelligence, but on average have a 10 to 15
points lower IQ than their siblings. 50 percent of cases have also reported learning disabilities, such as speech delays and language problems.
(NORD). Other symptoms are attention difficulties, and emotional or behavior issues. (Healthline) The life expectancy of a male with XYY
Syndrome is about 10.4 years less than the average. Males with XYY Syndrome on average have a life expectancy of 67.5 years compared of the
normal 77.9 years. (PMC)
Cause of the disorder Normally males have 46 chromosomes which include one X and one Y chromosomes, but males with XYY Syndrome have 47
chromosomes, two of which are Y chromosomes. Most cases of XYY Syndrome occur before conception due to a cell division error in the sperm.
Rarely does the cell division error happen after conception.

Influence Of Muscular Dystrophy
Inheritance of Muscular Dystrophy Muscular Dystrophy is a condition that affects the growth of muscles in the body. MD effects for the most part
manly males (1 in every 7,250 males) (CDC.gov). There are two main forms of MD, one is call Duchenne MD and the other Becker MD with a
lifespan average of 30 years old. Duchenne MD is the more severe form because no dystrophin is formed, when this happens the symptoms are
shown in early childhood usually by age 5. Becker MD is not as severe it is caused by misshapen dystrophin, when this happens symptoms are shown
later in life usually at age 10–20. Researchers identified that a gene in the X chromosome that when flawed it is the cause of MD. Dystrophin is the
gene that is needed in the X chromosome to have fully functioning muscle development. MD is inherited in only the X chromosome so males have a
50% chance of inheriting the condition if the mother is a carrier, but females have a very low risk because they get an X chromosome from both
mother and father. This condition is an X–linked recessive pattern. If a female inherits a mutated dystrophin gene from one of her parents, she will
usually get a healthy dystrophin gene from her other parent because the father can pass the recessive gene in the X chromosomes. The female
becomes a carrier just like her mother because the mutation is still in her genes . A male who mother who's is a carrier has a 50% chance of inheriting
the mutation and if they do inherit the gene they will develop the disease because they can not rely on ... Show more content on Helpwriting.net ...
It is a X–linked recessive gene that is pass down from the mother and affects the development growth of males offspring, and also can be passed
down to the female offspring but very really.. MD has a high inheritance rate of 50% in males. Males can not pass MD to the offsprings. MD is a
really interesting but sad diseases because of the inheritance and

Genetic Disorders: Triple X Syndrome
Triple– X Syndrome
Triple X Syndrome, also known as Trisomy X or 47,XXX, is a genetic disorder in which an extra X chromosome is present in each of a female's
cells. "Triple X syndrome results from an extra copy of the X chromosome in each of the female's cells. As a result of the extra X chromosome, each
cell has a total of 47 chromosomes (47,XXX) instead of the usual 46," (Triple X Syndrome.) About 1 in 1,000 newborn girls are affected with this
condition. Trisomy X is a genetic disorder that is not inherited, has little to no symptoms, and has no cure or treatments.
Trisomy X is not inherited, therefore the syndrome is not found on a certain chromosome number. The condition is due to an error. Humans are born
with a pair of sex chromosomes– ... Show more content on Helpwriting.net ...
Once the baby is born, a blood test is done as a diagnosis. "In CVS, tissue is taken from the villi of part of the placenta for examination, usually
between the 8th and 10th week of pregnancy" and "amniocentesis is done during pregnancy. Some amniotic fluid is collected and diagnosed for a
genetic or some other condition." (Nordqvist, What is Triple–X Syndrome?) Amniotic Fluid is the fluid surrounding the fetus in the amnion. There is
no specific screening to diagnose Triple X Syndrome, in most cases the condition is found when screening for another problem in the

Haldane 's Rule : An Observation
Haldane 's rule is an observation in the early stage of speciation, it was formulated in 1922 by the British evolutionary biologist J.B.S. Haldane. The
rule states that in a species hybrid if only one gender is inviable or sterile, this is more likely to affect the heterogametic sex, which is the sex that has
two different rather than two identical sex chromosomes. Haldane 's rule applies to the vast majority of heterogametic organisms observed. It includes
when two species, where secondary contact in an area of sympatry results in incomplete reproductive isolation, form hybrids after allopatric speciation
has occurred. As Haldane's Rules encompasses a generality for the evolution of reproductive isolation, at least in gonochoric animals, it holds a central
position in speciation research, especially since the mid–1980s, when studies of speciation genes began to blossom (Sun et al., 2004).
The rule includes both male heterogametic, female heterogametic and some dioecious plants. It has since been confirmed in many groups of animals,
including ones with male heterogamety, such as Mammalia, Diptera, Orthoptera, Teleostei and certain Amphibia and with female heterogamety, such
as Aves, Lepidoptera and certain Reptiles (Presgraves, 2010). There are notable exceptions to Haldane 's rule, where the homogametic sex turns out to
be inviable while the heterogametic sex is viable and fertile. This has been most commonly illustrated in Drosophila where it is proposed to function

Should Designer Babies Be Allowed
Should designer babies be allowed?
Introduction
In my case study I will be discussing should designer babies be allowed? I will be looking at what designer babies are, how would they be achieved? as
well as the pros and cons of designer babies. I will also review the possible effects that having designer babies has.
Explanation of designer babies
A designer baby is the word used to describe the act of genetically modifying the genes of babies. They can also screen embryos for any disorders
and could even been uses for modification of characteristics such as gender eye colour and even intelligence. Advanced technologies have allowed
doctors to be able to screen embryos for any genetic disorders to enable them to select healthy embryos. ... Show more content on Helpwriting.net ...
There is a variety of method which allows the separation of sperm but very few of these have withstood scientific checks which prove they work.
There is no sperm separation method that has produced high success rates of sperm separation to provide gender outcomes greater than 90% and
therefore further work is needed to perfect the sex selection.
Preimplantation genetic diagnosis (PGD) is a form of genetic testing. It is similar to the screening of abnormal chromosome count only used to test for
genetic diseases. The fertility institutes have used this to take gender selection to the next level. Stating that this has a greater than 99,9% success rate.
http://www.fertility–docs.com/fertility_gender.phtml This website is reliable as it is an organization which specifies in gender selection and therefore
has first hand experience in gender selection and the scientific understanding of it.
The Masterton Family
Gender of a child may not have much significance for some couples wanting a child, but this was not the case with the Masterton family.
A terrible accident in 1999 left them without their youngest child three year old Nicole. With their four sons they desperately wanted another little girl.
Although they say that they were not wanting to replace the daughter they had lost. They had been trying for 15 years to conceive

Klinefelter Syndrome Research Papers
If you are a male and are experiencing problems that aren't normal for most males, you may be someone with something called Klinefelter
Syndrome. Klinefelter Syndrome is a very common syndrome but not many people know about it, which is peculiar in a way, because statistically
one out of every 500 or so newborn males are diagnosed with this. If you are curious and want to learn more about Klinefelter Syndrome, or you think
you might have it, then read the following and you will know everything you need to know about Klinefelter Syndrome. In the next couple of
paragraphs the following will be explained: the description/definition of Klinefelter Syndrome, how many people it affects, the life expectancy of the
people with Klinefelter Syndrome,... Show more content on Helpwriting.net ...
Well let me tell you. Some people affected by Klinefelter Syndrome have sparse body hair, enlarged breasts, and wide hips. In almost all men the
testicles remain small. In some men the penis does not reach adult size. Their voices may not be as deep. They usually cannot father children. But
they can have a normal sex life. Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the
hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty,
breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals
also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias),
or an unusually small penis (micropenis). Hopefully all of the information above helped you understand and be aware of Klinefelter Syndrome.
Above, there was information on what Klinefelter Syndrome was, how many people it affects, the life expectancy of people with this syndrome,
how it's a genetic disorder, and how it affects your body if you do have this syndrome. This syndrome is more common than people think and not
really anybody knows about it, so hopefully this also spread awareness to you and hopefully you go and spread awareness about

Should Sex Be Ethical? Essay
Selecting sex to reduce the risk or prevent the inheritance of a sex–linked genetic disease in predisposed families or for other medical reason is
justifiable. Sex linked genetic disorders are diseases that arise when an X or Y chromosome carries on a defective gene to its offspring via germ cells.
In the case of X–linked genetic disease, if the mother is a carrier for a certain genetic disorder, then the son has a 50% chance of expressing the genetic
disease as the mother's X chromosome is always passed onto the son (Germain 2006). Genetic diseases like haemophilia, Autism, Fragile X syndrome
and Muscular Dystrophy, which all have the potential to significantly change child's health and lifestyle, can be prevented (Hart 2005). Allowing
parents to prevent a certain genetic disease, by choosing the sex of their child, will allow carriers to have children without abolishing the possibility of
parenthood or creating doubts about their capabilities of handling a child with a certain disease.
This however raises the argument that sex selection is not ethical as it can exacerbate the current stigma that surrounds certain diseases. It entails a
sense of discrimination to people already living with that disease as it reinforces that the trait as undesirable by selecting against it.
To be ethically justifiable only genetic diseases that significantly alter the child's way of living, manifests in childhood, lacks treatment or is rendered
incurable should be selected against.

Turner Syndrome Research Paper
Turner syndrome was first discovered by Henry H. Turner, MD, the pioneer endocrinologist who lived from 1892 to 1970 and is also credited with
publishing the first manuscript in 1938 that described the syndrome that bears his name.
Turner syndrome is a chromosomal condition that alters development in the female sex. Women with this condition are commonly shorter than average
and are usually unable to conceive a child, or become pregnant because of the absence of ovarian function. The syndrome is a chromosomal disorder
related to the X chromosome. This condition occurs in about 1 in 2,500 female births worldwide and is much more common among pregnancies that
do not survive to term (miscarriages and stillbirths). TS may be identified before birth during infancy or the early childhood. The diagnosis is usually
delayed until the young adult or teen years in those who have mild signs ... Show more content on Helpwriting.net ...
The syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the cause of TS isn't known,
it may appear to occur as a result of a random or accidental error during formation of either the eggs or sperm. Humans have 46 chromosomes, which
consists of a person's DNA and their genes. Two of these chromosomes, the sex chromosomes, decide a person's gender. The pair of sex
chromosomes in females are called X chromosomes. The way it is written is as XX. Males have an X and a Y chromosome. The two sex
chromosomes aid a person in developing fertility and the other sexual characteristics of their gender. In turner syndrome, the girl does not have the
usual pair of two complete X chromosomes. The most common synopsis is that the girl has only one X chromosome in her cells. Some girls with TS
do have two X chromosomes, but one of the X chromosomes is incomplete. In another synopsis, the girl has some cells in her body with two X
chromosomes, but other cells have only one. This is called

Dr Marie Tooth Dystrophy ( Cmt ) Is A Disease That 's...
Charcot Marie Tooth (CMT) is a disease that's unrecognized among the public, I want to make people aware of CMT. I find it extremely
important to spread awareness and aware people about its crippling conditions because it's an untreated disease leaving so many people affected,
feeling hopeless as they lose their ability to move and feel their body while their mind remains strong. Not only are there possibilities of having this
disease affect you at some point in your life, but they're chances of it affecting your love ones. I believe educating our general audience on; what this
disease is, how it's affecting us as a population, and what we can do ourselves to treat it and control it, could potentially make it a no–longer life
disabling... Show more content on Helpwriting.net ...
CMT can be passed down by sex–linked chromosomes or it can be passed down through autosomal inheritance. Either way, CMT is a mutation of
proteins required for the peripheral nervous system. If it's sex–linked it means the disease is carried on the female sex chromosome X, never on the Y
male chromosome. If it's autosomal it means it's carried in the DNA, on the genetic chromosomes. It can be recessive, needing two pairs of bad
alleles, one from each parent, or it could be dominant only needing one allele from either parent. There are cases where people were affected carrying
only one recessive allele, like men for instance (MDA, 2017), where males only have one X, if their X chromosome is a faulty one, it could be missing
genetic information it needs to keep rebuilding proteins the body requires for reproduction of those crucial proteins. CMT can pop up and affect
anyone at any given time in life, you could live with CMT your whole life and never know you have it, or you could find out you're a carrier for CMT
after you've passed it on to your offspring (Al–Thihli, K et al. 2012). As you can tell CMT is passed down through inheritance, we are the cause of the
continuing cases for CMT, and we still don't have a cure to treat the prior cases. It seems the disease is only continuing to be carried in more forms as
we diagnose more people and disclose more cases (Vallat, Jean–Michel, 2003).
CMT leaves the mind in tack while deteriorating the

Turner Syndrome Analysis
Turner syndrome is not a walk in the park. The medical condition comes with major complications that researchers are working on finding other ways
to help these girls live with the medical condition better. Turner syndrome affects about 1 in 3000 females. Monosomy, can happen in the zygote stage
and leave behind long term complications, also they have symptoms that are noticeable, and treatments that help the girl develop to live longer due to
new developments and reproduce.
Dr. Henry Turner in 1938 first definedturner syndrome, but not until 1960 the chromosomal oddity was found (Turner Syndrome Society of Canada,
2016). Dr. Henry Turner was an endocrinologist, they diagnose diseases related to glands. Monosomy X or Turner syndrome happens during the zygote
stage where the egg meets the sperm (Turner Syndrome, 2016). As... Show more content on Helpwriting.net ...
Since the female's height is stunted at 4'8" they can be given a human growth hormone so they can continue to grow a few inches (Turner Syndrome,
2016). Estrogen Replacement Therapy (ERT), is usually given to the girl at the time of puberty age 12 (Turner Syndrome, 2016). The replacement
therapy helps in the development of female features. The only time medical providers combine estrogen and progesterone is if the girl is age 15 and
hasn't menstruated (Turner Syndrome, 2016). Also, medical researchers have found a low–cost way to tell if the female newborn has turner and it's
through screen testing. Medical researchers have found a way to identify genes for reproduction success (Turner Syndrome, 2016). They are currently
trying effectiveness of drugs to prevent aortic dissection. It is known that even though the women's eggs are sterile the women can have IVF (In Vitro
Fertilization) done so that she may be successful in having a child (Carolyn A. Bondy,

Classify Genetic Diseases
There are three categories that can classify genetic diseases. They are single gene disorders, chromosome disorders, and multifactorial disorder or
complex disease. Each of these categories are different with and affect people in certain ways. Single gene disorders, also called Mendelian disorders,
are caused by a modification that occurs in one specific gene. An autosomal dominant defect occurs when there is an altered gene and a healthy gene
that are inherited. An example of this type of defect would be Huntington's disease, an individual only needs one copy of this defective gene on
chromosome four to have the disorder. Autosomal recessive defect, is another type of single gene disorders that occurs when there is two altered
variations of

Symptoms Of Hemophilia
There are many genetic disorders in the world. Some are obvious about what they do to a person's body. While others are more subtle or completely
unnoticeable from just looking at them. Some have severe side effects, while others do not. Genetic disorders affect people in that they affect
sometimes many people, they can shorten one's life expectancy, and it alters a person's body and possibly their physical appearance. One genetic
disorder that is more common, but still widely unknown, is hemophilia, a blood disorder. Hemophilia is a medical condition in which the ability of
the blood to clot is severely reduced, causing the sufferer to bleed severely form even a slight injury. This causes people to bleed for long periods of
time, since ... Show more content on Helpwriting.net ...
A hemophiliac's extent of bleeding will depend on the severity of their hemophilia. One symptom of hemophilia is excessive bleeding. Bleeding is
external and internal. According to the National Heart, Lung, and Blood Institute of the Institute of Health, "Signs of external bleeding may
include: bleeding in the mouth from a cut or bite or from cutting or losing a tooth; nosebleeds for no obvious reason; heavy bleeding from a minor
cut; bleeding from a cut that resumes after stopping for a short time". They also say, "Signs of internal bleeding may include: blood in the urine
(from bleeding in the kidneys or bladder); blood in the stool (from bleeding in the intestines or stomach); large bruises (from bleeding into the large
muscles of the body". Another thing this disease does to the body is it causes bleeding in the joints. This is another form of internal bleeding. Some
joints included are the knees and elbows. The process of bleeding in the joints goes as follows; the joints are tight, but with no pain or visible signs of
bleeding. Then, the joint becomes swollen, hot to the touch, and it is painful to bend. Bleeding and swelling both continue. Movement in the joint
becomes temporarily lost. The pain can be severe. If this is not treated quickly, then the joint may be damaged. More internal bleeding includes
bleeding in the brain. This is, as imagined, a very serious complication. It can

Essay on A Study Of Inheritable Traits In Fruit Flies
A Study Of Inheritable Traits in Fruit Flies
INTRODUCTION
The Drosophila melanogaster, more commonly known as the fruit fly, is a popular species used in genetic experiments. In fact, Thomas Hunt Morgan
began using Drosophila in the early 1900's to study genes and their relation to certain chromosomes(Biology 263). Scientists have located over 500
genes on the four chromosomes in the fly. There are many advantages in using Drosophila for these types of studies. Drosophila melanogaster can lay
hundreds of eggs after just one mating, and have a generation time of two weeks at 21В°C(Genetics:
Drosophila Crosses 9). Another reason for using fruit flies is that they mature rather quickly and don't require very much space. ... Show more content
on Helpwriting.net ...
Next, we removed the F1 generation flies to prevent breeding between the two generations. Acting as Dr. Kevorkian, we gave the F1 generation a lethal
dose of the seemingly harmless anesthesia, fly–nap. A trumpet solo of "Taps" played in our minds as we said goodbye and placed them in the fly
morgue. We allowed the F2 larval generation to incubate for two weeks. The experiment called for one week of incubation, but Easter fell during that
week which interfered with our lab time.
After the two weeks, the F2 flies were also terminally anaesthetized. Only, before saying goodbye, we separated the flies according to sex and eye
color(wild–type,red or mutant, sepia), recording the results in Table 1. The same method was used it the dihybrid cross, except, instead of one trait,
two traits were observed. The traits were eye–color(wild–type, red or mutant, sepia) and wing formation(wild–type, full or mutant, vestigial). The F1
generation for the dihybrid cross came from a cross between a male homozygous wild–type for eyes and wings, and a female homozygous for sepia
eyes and vestigial wings. The results of this cross were recorded and appear in Table 2.
RESULTS
The monohybrid cross of Drosophila melanogaster produced 25,893 flies for all of the sections combined. Of those flies, 75.9% had wild–type(red)
eyes, and 24.1% had mutant(sepia eyes). Overall, more females were produced than males.
TABLE 1: F1 Generation Monohybrid Cross of Drosophila

What is Turner Syndrome? Turner Syndrome was named after Dr. Henry Turner who discovered it in 1938, but also referred to as Ullrich
–Turner,
Bonnevie–Ullrich–Turner, and Gonadal Dysgenesis. This syndrome occurs in 1 out of 200,000 females. Making it a rare syndrome that only 70,000
people in the whole world has. Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous
chronic conditions. Genes are passed on to a child from each parent, in structures called chromosomes. You have 23 pairs of chromosomes in each cell
of your body. Each chromosome contains thousands of genes. Our genes determine how our body functions, what we look like and sometimes what
diseases we will get. A female... Show more content on Helpwriting.net ...
They primarily include hormone growth therapies and estrogen supplements. Growth hormone treatment is usually given several times a week as
injections. The goal is to increase height as much as possible at appropriate times during their development years. They would need to start estrogen
and related hormone therapy in order to begin puberty and achieve adult sexual development, until the age when menopause starts to happen is when
they will have to be on it till. There will be few women with Turner syndrome who can become pregnant without fertility treatment. For those who
cannot get pregnant they have the option of doing special hormone therapy and getting donated ovaries and

Genetic Disorders: Hemophilia B
Sarah Griffin
BIO 271–IN1
Disease/Disorder Paper
4/16/15
Hemophilia A Hemophilia is a rare blood condition in which an individual's blood cannot clot appropriately to stop bleeding. There are two types of
Hemophilia, Hemophilia A and Hemophilia B. This paper will be focusing on Hemophilia A, also known as classic hemophilia. "Hemophilia A is a
genetic disorder caused by a missing or defective factor VIII, a clotting protein" (National Hemophilia Foundation, n.d., para. 1). Clotting proteins work
with cell fragments called platelets to stop bleeding. "When blood vessels are injured, clotting factors help platelets stick together to plug cuts and
breaks on the vessels and stop bleeding (National Heart, Lung, and Blood Institute, 2013, para. ... Show more content on Helpwriting.net ...
Family history of this disorder will help to determine the necessary diagnostic testing needed. "A clotting test, called an assay, will determine the type
of hemophilia and its severity" (National Hemophilia Foundation, n.d., para. 10). A clotting test will require blood to be drawn and sent to the lab for
analysis. Treatments for hemophilia include medications that help replace deficit or missing clotting proteins. "The main medication to treat
hemophilia is concentrated FVIII product, called clotting factor or simply factor" (National Hemophilia Foundation, n.d, para. 11). The medications are
usually introduced intravenously in the arm or a port in the chest (National Hemophilia Foundation, n.d., para. 12). It may take a little tampering with
certain medications by a physician to find the right medication and dose for each individual. In additions, mild hemophiliacs may be prescribed
desmopressin acetate, a natural antidiuretic hormone that stops bleeding; which can be used for joint and muscle bleeds (National Hemophilia
Foundation, n.d., para. 14). Severe hemophiliacs may be recommended a prophylactic regimen to help maintain an appropriate level of clotting factor
in their blood in order to prevent bleeds (National Hemophilia Foundation, n.d., para. 13). Patients with mild hemophilia can lead a normal life with the
right treatments and precautions, however

Title IX Research Paper
You play like a girl.
Men and women may have different plumbing but that doesn't mean that their physical and educational rights should be any different. Title IX is a
law signed by Richard Nixon in 1972, which gives women the same rights as men pertaining to sports and education. Title IX changed the lives of
tons of women across the globe by increasing their educational and career opportunities, reducing their risk of breast cancer and teenage pregnancy,
but also by making them and easy way for guys to degrade each other.
Before Title IX, only 9% of all doctoral degrees awarded were to women, now almost 50% are awarded to women. "When I grow up I want to be a..." if
a young girl finished this statement with a doctor or a lawyer or any other ... Show more content on Helpwriting.net ...
Actually by having your genitals located inside of your body you are less likely to experience blunt force trauma damage to them. "Sex is not nearly
as confining a category as stereotypes and even some academic studies would have us believe."(Science confirms the obvious) Men and women do
have differences but we aren't as black and white as everyone thinks. Physically, they do fall into two distinct categories when it comes to waist–to–hip
ratio and height, but that doesn't always mean that men are stronger than women. It all comes down to DNA, women have two X chromosomes while
men only have one X chromosome and one Y chromosomes, and the X chromosome is the larger and stronger of the two chromosomes so by having
two compared to the males one, women are by definition stronger than

Genetic Disease : Turner Syndrome
In 1938, Dr. Henry Turner first described Turner Syndrome. Turner Syndrome a genetic disease that only affects girls, in fact, it is one of the most
common sexual development disorders (Radtke et al. 2014). It is caused by an abnormal sex chromosome, either an abnormal X chromosome or a
missing X chromosome. The sex chromosome contributed by the father to the child determines the sex of the child because the mother always
contributes an X chromosome whereas the father can contribute either an X chromosome or a Y chromosome (Snustad 2012). Turner Syndrome is the
result of an abnormal sex chromosome, so if the father's sex chromosome is missing, then the child will only have a single X chromosome from the
mother resulting in the child being ... Show more content on Helpwriting.net ...
Although rare, the final cause of Turner Syndrome, Y chromosome material, occurs when the fetus has some cells with a single X chromosome and
other cells have a complete X chromosome along with some Y chromosome material. This results in the fetus biologically developing into a female,
but with some male genetic material there Turner Syndrome develops as well as an increased risk of the cancer gonadoblastoma. Turner Syndrome can
be suspected during pregnancy during a routine ultrasound. One way that it is possible for Turner Syndrome to be suspected during an ultrasound is
lymphoedema (Rodrigues et al. 2013). Lymphoedema is when the fetus demonstrates swelling of the body's tissues. If lymphoedema is present on an
ultrasound and the physician suspects Turner Syndrome, then chorionic villus sampling or an amniocentesis can be performed (Radtke et al. 2014).
Chorionic villus sampling is when a sample of cells is taken from the placenta. The sample of cells is then tested for any genetic conditions through
using chromosomal analysis and biochemical analysis. Amniocentesis is when a sample of the amniotic fluid is removed from the amniotic sack. Next,
the sample is tested for any genetic conditions through using chromosomal analysis and biochemical analysis. Chorionic villus sampling and
amniocentesis differ in the type of sample that is tested, but they are both used to test the genetic conditions of the fetus.

Heterogenetic Disorders: Color Blindness
GENETIC DISORDERS: COLOUR BLINDNESS
Briefly describe the disorder. Include characteristics, symptoms, age of onset and any relevant ethnic information. Do NOT list every symptom or
characteristic. Include only the most relevant and important points.
Colour blindness is a disorder where a person has the inability to distinguish between colours, due to missing colour–sensing pigment in the eye's retina
cones. Around 1 in 12 men have this disorder and 1 in 200 women have it. Characteristics of blindness include the different types of it. There are a few
different types of colour–blindness, the most common type of colour–blindness which 99% of colour–blind people have is not being able to distinguish
between red and green light and any other colour that is made up of these colours, this can be seen in figure 1. This is usually referred to as red/green
colour blindness but has the proper name of deuteranopia. Colour blindness is a disorder ... Show more content on Helpwriting.net ...
This means that the couple's children will have a 3 in 4 chance of being colour blind.
Describe the prognosis for individuals with this disorder. Are there any medical treatments available? What is the average life expectancy? Are there
genetic tests available?
Colour blindness is inherited from parents and an affected person will be affected in both eyes and will be colour–blind for their entire life. People can
acquire colour blindness later in their lives. Colour–blindness acquired later in life can be linked to diseases that affect the optic nerve or the retina of
the eye. There are no medical treatments for this disorder and it doesn't affect an individual in any way except for the fact that they cannot see colour.
What is the current research focus or gene therapy (if any) for this disorder? Are tests available to determine the presence of the genetic

Klinefelter's Syndrome Research Paper
Klinefelter's syndrome is the most common genetic disorder found in men, an additional X chromosome giving the man a sex chromosomal pattern
XXY, is the main cause of this disorder. The most common characteristics that are present in the men diagnosed with Klinefelter's syndrome include,
"gynocomastia, small testes, and azoospermia" or infertility (Mailburg, 2012, p 253). Although infertility is the most common diagnosis for this
disorder, many of the men are not diagnosed until later in life, after they have failed to conceive, but with the help of intracytoplasmic sperm
injections (ICSI) men are able to conceive their own biological children. Intracytoplasmic sperm injections are used in addition with in vitro
fertilization, where a single sperm taken from the man is injected directly in the egg. There has been extensive research done on the best time to
retrieve the sperm from those with Klinefelter's syndrome and the possible problematic... Show more content on Helpwriting.net ...
The most common karyotype is the paternal 47,XXY which account for over three fourths of those with Klinefelter's syndrome, but there are a small
number of cases (10–20%) that have a "mosaic karyotype, 46,XY, 48,XXY or 48,XXYY." (Maiburg, 2012). It is believed that Klinefelter's syndrome
develops after sister chromatids fail to separate correctly or separate early during meiosis I, and this is thought to be the main cause of infertility
(Maiburg, 2012, pg 254). Males can inherit this from either their mother or their father, although the nondisjunction happens at different stages of
meiosis, if inherited from the mother it could have happened during meiosis I or II, whereas in the father it has to happen during meiosis I (Maiburg,
2012, p 254). Just like with other genetic disorder's age of the parents, particularly the mother, also play a sizeable role, in the development of
Klinefelter's

Essay On Turner Syndrome
Turner syndrome is a chromosomal condition that affects development in females. The most widely recognized element of Turner syndrome is short
stature, which gets to be obvious by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is likewise
extremely common. The ovaries grow ordinarily to begin with, however egg cells (oocytes) generally kick the bucket rashly and most ovarian tissue
ruffians before birth. Numerous young ladies don't experience puberty unless they get hormone treatment, and most can't conceive (barren). Small
percentages of females with Turner syndrome hold ordinary ovarian function through young adulthood (Turner Syndrome, 2016). Turner syndrome
(TS) is a cross–cultural genetic ... Show more content on Helpwriting.net ...
In adults Turner syndrome classic symptoms are sexual infantilism, primary amenorrhea, webbed neck, and cubitus vagus. Some other characteristics
are poor breast development and the chest shield shaped with wide space nipples. 50% of most Turner syndrome cases result in hearing loss. Other
malformations are coarctation of the aorta which is present in about 15% of babies and accounts for 50% of cardiac abnormities in Turner's
syndrome. In most Turner's syndrome the verbal IQ is normal but the motor IQ is lower than the average person because of spatial relationships
(Shepard, 2004).
Some studies show girls with Turner syndrome experienced higher risk of behavior problems than other girls. Growth and height abnormalities various
with Turner's syndrome patients. Treatment is started when the child height declines below the 5th percentile. Most girls will have to take extra
estrogen at puberty to compensate for the ovaries not function. Also when girls are diagnosed with Turner syndrome it is necessary to obtain an
echocardiogram to rule out any cardiac abnormalities (Shepard, 2004).

Turner Syndrome
Every 1 in about 2,000 to 2,500 females born are afflicted. Turner syndrome is a non–inherited disease caused by abnormalities or lack of one of the X
chromosomes. It can affect a female's height and reproductive system. First described in 1938 by Henry Turner, this disease has been known to
plague women for years without a cure. Turner syndrome affects the way a female goes through puberty, her ability to have kids, and much more. The
whole body is affected, but mainly the reproductive system, and there are two kinds that a female can have. Both have similar effects, but can they can
differ in severity. These two types are classical Turner syndrome and Mosaic Turner syndrome.
Origin of Discovery Turner syndrome was described ... Show more content on Helpwriting.net ...
Women with this disorder can have any number of combinations of these symptoms. The most common symptoms are short stature, infertility, ovarian
failure, heart abnormalities, and delayed puberty. Still, there are many more symptoms and diseases that may come along with having Turner
syndrome. Other symptoms include dental problems, pregnancy complications, drooping eyes and cataracts, low set ears and hairline, high arched
palate, hypothyroidism, pigmented moles, diabetes, hypertension, ADHD, hearing loss and infections, kidney problems and infections, wide short
neck, overweight, scoliosis, broad shield chest, upturned fingernails. In a few cases learning disabilities and anxiety are side–effects of Turner
syndrome, but most women with Turner syndrome have normal intelligence (www.turnersyndromefoundation.org). The best outcomes come from
early diagnoses and treatment. Early treatment can help to lessen the severity of symptoms.
Cause of Disorder Turner syndrome is caused by abnormalities in the X chromosome. It can be caused if the X chromosome is partially or completely
missing. In some cases affected women only have a structural change in the chromosomes of some of their cells. This is called mosaic Turner
syndrome. Both kinds of Turner syndrome are a random chromosomal disorder that starts when there is an error in cell division during early fetal
development, or in the formation of the parent's reproductive

Triple X Syndrome Testing and Diagnosis
Dear, Brown Family I am Dr. Cunningham I have a PHD and MD from Stanford University. I am a Obstetrics and Gynecology affiliated with St.
Vincent Health Hospital I have been working here for about 6 years now. Over week I have been doing numerous test on your daughter such as
Amniocentesis and Chorionic Villus sampling. Chorionic villus is collected by putting a long thin needle through the belly into the placenta.
Amniocentesis is tested by getting a sample from the amnion or amniotic sac surrounding a developing fetus and the fetal DNA is examined for genetic
abnormalities. The purpose of these testing is to determine whether or not your daughter is diagnosed with Triple X syndrome.These test can be done
at any time but preferably early in pregnancy. As my years of being a doctor I have seen about 1990 women undergo Chorion Villus sampling and
there were no serious maternal infections among the women in this. Also, Amniocentesis testing is not very risky due to the fact there is a low risk of
pregnancy lost when this test is done. Before I did the Chorionic and Amniocentesis testing on your daughter I explained the potential drawbacks to her
such as miscarriages, uterine contractions or tenderness, feeling shivery (like you're going down with flu), infection and amniotic fluid leakage which
can lead to the baby developing hypoplastic lungs (underdeveloped lungs).
A chromosome is a threadlike structure within the nucleus that contains genetic information that is passed

I chose to research Turner Syndrome because it sounded very interesting. Turner syndrome is a condition that affects females only. Turner syndrome
is the result of a missing, whole or partial, X chromosome. Turner syndrome can be diagnosed before birth but will occasionally not be diagnosed
until the teen years. Diagnosis will depend upon symptom severity. Turner syndrome has symptoms for both those born before and after birth.
Diagnosis is dependent upon finding symptoms when it comes to prenatal diagnosis. Abnormal fluid collection, abnormalities of the heart, and
kidney abnormalities are all signs that doctors will look to when attempting to diagnosis the syndrome. Turner syndrome is a very physical syndrome.
The signs and symptoms are physical and easily spotted in many if not most. Symptoms for many include poor overall growth and will be apparent at
birth and infancy. Wide or web like neck, a small lower jaw, high and narrow roof of the mouth, low–set ears, low hairline and the nape of the neck,
short fingers and toes, outward turned arms, swelling of extremities, short height, and delayed growth are all large and prominent signs of Turner
syndrome at an early age. There are some cases of delayed diagnosis of Turner syndrome. Symptoms for those that are... Show more content on
Helpwriting.net ...
There are three types of genetic abnormalities associated with Turner syndrome monosomy, mosaicism, and Ychromosome material. Monosomy is the
complete absence of an X chromosome. Monosomy is due to an error in the mother's egg or the father's sperm. Mosaicism is a cell division error that
occurs during fetal developments early stages. Some of the cells will have two copies of the X chromosome while others will only have one. Y
chromosome material is rare in comparison to the two other abnormalities. In Y chromosome material there is one copy of the X chromosome and
other cells will contain a X chromosome and some Y

The Two X Linked Inheritence
X–Linked Inheritence
The topic which is assogned to me is X– linked inhertance that is a pattern of inheritance in which the spread of traits differentiate according to the sex
of the individual because the genes which are present on the X chromosome have no counterparts on the Y chromosome. The inheritance pattern can be
recessive or dominant. The trait firm by a gene on the X chromosome is always expressed in males.Because we know that males only d have one X
chrmosome whichever the disease related to it will express itself in the individual. Transmission from father to son does not occur. There are two Kinds
of X–linked inheritance are X–linked–dominant inheritance and X–linked recessive inheritance.
1–X–Linked Recessive Inheritance
Now lets us we some breif explanation of X–linked recessive inheritance. it is a mode of inheritance in which a mutation in a gene on the X
chromosome causes the phenotype to be articulated in males (who are necessarily hemizygous for the gene mutation because they have only one X
chromosome) and in females who are homozygous for the gene mutation (i.e., they have a duplicate of the gene mutation on both of their two X
chromosomes).
X–linked inheritance can be expressed as the means that the gene causing the trait or the disorder is present on the X chromosome. Females have two
X chromosomes while males have one X and one Y chromosome. Carrier females who contain simply one replica of the mutation do not typically state
the phenotype though

Klinefelter Syndrome Analysis
Klinefelter Syndrome is the presence of an extra X chromosome in the male. Klinefelter disease is the most common chromosomal malfunction.
Klinefelter Syndrome Is a fault in cell division when the reproductive cell of a parent is being designed. (Kids Health 2015) Klinefelter Syndrome
occurs in 1 out of 1000 males. (Dennis O'Neal, 2013) In identifying the Klinefelter syndrome, the signs and symptoms fall into four main categories:
Physical Symptoms, Language and Learning Symptoms, and Social and Behavioral Symptoms. Most boys with KS tend to have more feminine
physical aspects. Boys with Klinefelter Syndrome may be slightly taller, fatter around the belly, clumsier, slower in developing, coordination, speed,
and strength. When puberty hits,... Show more content on Helpwriting.net ...
(Kids Health 2015) It occurs sporadically. There isn't a certain age, but tests are definitely used to diagnose KS with hormone testing and chromosome
analysis, which usually involves blood tests. (Mayo Clinic Staff 1998–2015) There isn't a cure to this condition, but there are treatments available. The
lack of testosterone sends many males with KS to testosterone replacement therapy helps with maintaining suitable levels of red blood cells, muscle
strength, bone density, and reproductive function. (Cleveland Clinic 2009) Chromosome analysis is the evaluation of determining how a person's
chromosomes are built to discover any malfunctions or abnormalities (American Association for Clinical Chemistry, 2001– 2015). A KS patient could
also receive breast reduction surgery. It would be wiser to have this operation after the testosterone replacement therapy because the therapy actually
promotes breast growth. To help the language and learning symptoms, speech and language therapy can be provided. Physical and occupational
therapy may be helpful in rebuilding muscle and coordination. (Klinefelter syndrome and other sex chromosomal aneuploidies, October 2006)
Depending on the severity of the syndrome, you can live a normal life. Most men get jobs, form relationships and have a normal life span. (Your
Hormones, 2014) Life expectancy is normal unless in extreme cases 2.1 years. (Alexandra M. Molnar, MD; Genji S. Terasaki, MD; John K. Amory,
MD, 2010) Doctors and scientist are working hard to conduct new information on Klinefelter Syndrome. There is no cure, but they are working hard
on finding one. Although this syndrome is not new, research is still ongoing and they need more people to volunteer and really help with new
discoveries. Klinefelter Syndrome is on its way. (EMedTV,

Rett Syndrome
Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X–linked mutation and although it is
genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the "babies rarely live past birth" (Bhandari, 2017).
The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at "12 and 18
months, and they can be sudden or progress slowly." (Bhandari, 2017). Symptoms include "slowed growth, trouble with breathing, no language skills,
problems with hand movements, muscles, and coordination" (Bhandari, 2017). There is no cure, but the best available treatments include "standard
medical care... Show more content on Helpwriting.net ...
Social stigma is prejudicial attitudes directed towards individuals with mental health problems. Perceived stigma is internalizing perceptions of
discrimination (Davey, 2013). Social stigma relates to RTT because it can be detrimental to the treatments being implemented; although they may not
be able to talk back to people, they can still understand the world around them. Perceived stigma relates to RTT because they are still humans and they
still have feelings about the way society treats them. Treating them horribly can make them internalize these actions and hinder their progress in their
treatments and lower their self–esteems. Justice, or fairness, is the bioethics principle that can reduce the consequences and improve health outcomes
because it "seeks to eliminate discrimination", which directly influences RTT people's behavior ("Bioethics", n.d.). The extreme social anxiety and the
irritableness could be intensified if they were treated unfair compared to their peers like being ostracized in school. As I mentioned before, they rely
heavily on their social support system, so if that's not strong and encouraging, their chances in treatment declines. Their health outcomes truly depend
on their surrounding social circles; for example, people with Rett syndrome benefit from peer learning (Bhandari,

Acid-Base Imbalance And Genetic Analysis
There were two concepts that were challenging during this semester: acid–base imbalance and the congenital and genetic disorder.
Trying to understand the concept in depth was the difficult for me. I already learned about some areas such as the amount of chromosomes, genotype,
and phenotype. I was not familiar with the specific arrangements and the certain disorders that can occur. It was very interesting going over the
karyotype chart. Even though a nurse does not analyze the karyotype chart, I tried to figure out the difference between the normal chromosomes and
abnormal chromosomes. Certain charges are noticeable and others are not. Abnormalities that can occur are aneuploidies, which are diseases caused
by alterations in the normal (euploidy) number of chromosomes of the species. An example of aneuploidy is Down syndrome or trisomy 21, in which
there are three copies of chromosome 21 instead of the normal pair. The chromosomal abnormalities group also encompasses deletions (the absence of
part of a chromosome), inversions (in which a chromosome breaks and its pieces reconnect inversely), and translocations (pieces of a chromosome that
exchange positions)" (biology). ... Show more content on Helpwriting.net ...
I had to constantly go over the chapter and punnet square to help understand this concept. Recessive the gene must be passed by both parents in order
for the disease or trait to pass down. The percentage of a child to be affected or normal is 25% and there is a 50% chance for the child to be a carrier.
The dominant disorder is different because the child can not be a carrier and it only takes one parent that carries the allele for the offspring to have the
disorder. If one parent had the disorder the percentage for the offspring to have it too is 50%, but if both parents has the the disorder the percentage is

Human Sex Ratio At Birth
Introduction According to the statistical predictions and Mendelian law of segregation applied to X and Y chromosomes, the numbers of boys and
girls born are supposed to be equal, so the sex ratio for humans is expected to be 50:50 (1). However, in the real world, the observed results do not
follow this pattern; the actual values can be as high as 170 boys born to 100 girls (2). The major reason that supposedly causes such imbalance in human
sex ratio at birth is that more male embryos tend to survive throughout pregnancy (3).
The reason why it is happening is not definitive. The big problem is that not a lot of a research has been done in this area. Most of the works only
confirm the idea of male prevalence at birth, however, there is ... Show more content on Helpwriting.net ...
(4)The idea of statistical chance can be eliminated – the imbalance in sex ratio at birth is observed throughout the history, so there definitely should be
some mechanism that induces production of more male embryos than female. Such a trend has been observed not only in humans but among mammals
in general (5).
Another idea explaining male–biased sex ratio imbalance at birth has to deal with female after birth survival advantage (1). The sex ratio from birth
to death is gradually turning the opposite direction: decreasing in males and increasing in females ratios. By the age of 100 there are about four
women to every man (1). Even though female fetuses are assumed to be less likely to survive during pregnancy, after birth males suffer more fatal
disease, take more mortal risks, and are exposed to more violences than girls. By the time these kids reach their reproduction age, the sex ratio comes
to about 1:1. Based on this trend, it could be evolutionary adaptive to produce more males in order to fix the sex ratio by the time of the new
reproduction wave in order to regulate the size of population and to have equal parental expenditure (6). That means that this pattern has been naturally
selected for and passed and inherited through generations. However, this idea does not explain the mechanism of this inheritance.
The key to solve this problem might be hidden in genetics. The crucial difference between human males and

Dr. F. Klinefelter Summary

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