Turner Syndrome Research Papers

Turner Syndrome Research Papers
Nadine Nguyen
Bio 181 Lab
Date: April 28, 2016
Turner syndrome Turner Syndrome, a genetic disease that had its first manuscript in 1938 published
by a pioneer endocrinologist named Henry H. Turner. It is a chromosomal condition that is a most
common genetic problems that occurs in women it occurs 1 in 2,500 female births worldwide, it is
more common among pregnancies that do not survive to term of miscarriage and stillbirths. A
condition that only occurs in the development in females that have the risk of a missing or defective
X–chromosome within their whole or a fraction of their cells, showing that this disorder is not
inherited but occurs spontaneously, a condition that is called Turner syndrome. Turner syndrome is
when an abnormal ... Show more content on Helpwriting.net ...
They are aiming to understand the impact of Turner syndrome during its various state of woman's
life, such newborn child ,adolescent, and women of childbearing age. Their main focus is the
cardiovascular effect of Turner syndrome in women that occurs in more than 20% of women with
Turner syndrome. They also research and discover that the abnormality of the aorta is common for
half of the women with Turner syndrome,in which called elongated transverse arch of the aorta, that
put women in risk for aortic
... Get more on HelpWriting.net ...

1.Berenice Is 20 Years Old And A Single Parent. She Recently
1. Berenice is 20 years old and a single parent. She recently moved into a new apartment and started
college. She is Hispanic and suffers from diabetes. She is pregnant and also overweight, mostly due
to her diet, which consists of lots of processed foods and fast food. She works 40 hours a week, and
she is valued at her job due to her bilingualism and knowledge of computers. Identify the life stage
she is in as well as the biological, cognitive, and socioemotional processes that are interacting to
influence her development.
The life stage that Berenice is currently in is the early adulthood stage. Her obesity is interacting
with her biological and cognitive processes for her development. The biological side of her obesity,
is that she ... Show more content on Helpwriting.net ...
Some of the diagnostic test Jennifer may expect would be a maternal blood test, amniocentesis, and
a chorionic villus sampling test. These tests can tell her whether her baby has birth defects of the
brain and spine (maternal blood test), also to see if the baby has chromosomal birth defects such as,
Down syndrome, muscular dystrophy, and cystic fibrosis (amniocentesis test), and CVS test, which
tests for the same birth defects as amniocentesis, the results just come back quicker, but do not give
enough information, therefore an amnio test is recommended as well. The risks associated with
these diagnostics can result in a miscarriage.
3. Ashlyn is 5 years old. She loves to draw pictures of her family and have tea parties with her
stuffed animals, where she gives them all different voices. Ashlyn also enjoys playing hide and seek
with her older sister, Samantha, who is 10 years old, but she is not very good at it. Samantha
normally finds her very quickly because Ashlyn tends to "hide" by covering her eyes. In the last tea
party they played together, Samantha tricked Ashlyn by offering her three small cookies in exchange
for one large piece of chocolate cake. Ashlyn was excited because she recently learned to count and
knows that three is greater than one. Using the information given, how would

Prenatal Screening
According to https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0072602/ antenatal screening are
done on 'people who do not feel ill' and so suggest that screening can very useful for midwives in
helping them detect disorders before any outward signs or symptoms are shown and allows
midwives to identify babies that are at a high risk of a disorder and so prenatal diagnosis establishes
whether or not the disorder is definitely present which can then lead to the disease being treated at
an earlier stage. Screening does not replace diagnosis; it aims to provide midwives and mothers with
information which can help them with further decision making.
CHORIONIC VILLUS SAMPLING AND AMINOCENTESIS
According to https://en.wikipedia.org/wiki/Amniocentesis amniocentesis is a medical procedure
which is used in prenatal diagnosis of chromosomal abnormalities and fetal infections as described
below. Amniocentesis carries a small risk for both mother and child and so the test may be offered to
mothers who have a significant risk for genetic diseases. However, according to
https://www.google.co.uk/#safe=strict&q=chorionic+villus+sampling&*&spf=115 Chorionic Villus
Sampling (CVS) is a test done during the early stages of pregnancy to detect congenital
abnormalities in the fetus. It allows the mother to be checked for any signs of Down's syndrome,
Edwards' ... Show more content on Helpwriting.net ...
Boys are usually affected more severely than girls. Most babies with this disorder are born to
couples who don't have a family history of the disorder so screening is needed to determine the
couple's carrier status. Both parents provide blood samples and the women's sample is tested to see
whether she is a carrier. Amniocentesis and chorionic villus sampling can both be used to screen for
fragile X and

Side Effects Of Tay-Sachs Disease
Tay–Sachs Disease is a rare fatal hereditary disease, occurring chiefly in infants and children,
characterized by a red spot on the retina, gradual blindness, and paralysis. In infants, it is a
progressive disease that is unfortunately always fatal. It is a rare metabolic disorder with severe
neurologic symptoms.When you get this disease it causes fatty acids to start breaking down. Theses
fatty acids are called lipids. Without Hex–A lipids start building up and eventually destroy the nerve
cells in the brain. This is what makes the nervous system stop functioning properly. Image result for
tay–sachs
Side effects of this disease:
Defness
Blindness
Decreased muscle tone
Increase startle response paralysis or loss of muscle function
seizures

BRCA Genetic Testing
UCLA researchers conducted an experiment and found out that other diagnostic tools are more
efficient and cost–effective than universal screenings. This was overlooked by Dr. Patricia Ganz, the
director of the division of cancer prevention and control research at UCLA's Jonsson
Comprehensive cancer center. These researchers concluded the BRCA genetic test is too expensive
to license universally. This test usually costs $4,000 and is not worth it because of how rare BRCA
mutations are. In order to follow through with this test, the price would have to drop by ninety
percent. Researchers say that of 10,000 people, the BRCA test would only detect four cases of breast
cancer and two cases of ovarian cancer. This shows it is more cost effective ... Show more content
on Helpwriting.net ...
These tests each do something different and can be performed at different periods of the pregnancy.
Amniocentesis tests can be done fifteen to twenty weeks during pregnancy and will remove some
amniotic fluid from the mother. This fluid will be tested for chemical indicators or used to create a
karyotype. An ultrasound is done a couple times during a pregnancy and looks for major structural
issues. Also, the fetus can be looked at during a fetoscopy where a fiber optic scope is inserted into
the uterus to examine the fetus. The last test is Chorionic Villus Sampling. This test can be
performed between eight and ten weeks where tissue from the placenta is removed and the parents
will receive results faster than most tests. These tests can help parents discover that their child may
be in danger due to a genetic disease. This could give a heads up to parents and look farther into the
disease and its consequences,
I feel it is very important to get genetic testing done because particular diseases could have major
effects. If a person really wants to get a test done, they would be willing to pay the price. This would
make the BRCA test more successful and doctors should only perform the test if the patient is
willing to pay for the

Genetic Essay On Huntington's Disease
Biology
Huntington's disease
#18 Loreto, Cassandra Period 3 Feb.8, 2017
(Brain scan provided by www.radpod.org)
Huntington's disease
Each parent contributes 23 chromosomes to their unborn child. The child's genetic makeup is made
from both its mother and father and will have 46 chromosomes in all. The child will get the traits
their parents have that are dominant. For example, if a father has brown eyes, it dominates all other
eye colors. Therefore, his child would have brown eyes.
This couple wants to do genetic testing on their unborn child because huntington's disease runs in
their family. The mother's mother had huntington's disease and the couple is worried for their child's
health. Another factor impacting them is that they are of ... Show more content on Helpwriting.net ...
If a parent has huntington's disease, their children will most likely have Huntington's disease. If a
mother has huntington's disease, then she is heterozygous (Hh) for huntington's disease. If the father
does not have huntington's disease, then he is homozygous recessive (hh) for the disease. If this
couple wants to know the chances of their future kids having huntington's disease this punnett
square will help them.
(Punnett squares by vanhorn huntington's disease)
This punnett square shows how if this couple were to have four kids, half of them would develop
huntington's disease.
Huntington's disease only has one risk factor. This is because it is genetic. If the mutated gene is in
the family, there is a high chance the baby will also have the mutated gene. The baby would have
huntington's disease if the family has a mutated HTT gene. Huntington's disease will affect this
pregnancy and any future pregnancies because it is a genetic disease that only gets passed

Down Syndrome: A Genetic Disease
Down Syndrome is a genetic disorder that causes learning disabilities. It's caused when abnormal
cell division results in more genetic material from chromosome 21. This genetic disorder is very
common or most occurring. Down Syndrome might cause some health problems. Down Syndrome
has only one name and it is Trisomy 21.
There are multiple causes of down syndrome. Down syndrome occurs when abnormal cell division
in early embryo development. Down Syndrome might be passed down through families. It depends
on how many more have the extra or abnormal chromosomes. There is no cure for Down syndrome
yet. There are two prenatal tests for down syndrome. One of the tests for Down syndrome is
Amniocentesis which is a surgical insertion of a hollow

Pregnancy And Its Effects On Pregnancy Essay
Pregnancy begins with a fetus developing inside a women's uterus, and ends with the birth of a baby.
Pregnancy involves a variety of clinical laboratory tests that can provide important information from
the beginning of pregnancy through the first days of the newborn's life. A variety of laboratory tests
are performed throughout pregnancy at different specified times. Ninety five percent of pregnancies
result in a safe delivery of a healthy baby, but there are complications that can arise unexpectedly.
Laboratory tests are important because they will help identify possible complications, and provide
specific information about your baby's health during pregnancy. There are a variety of tests that are
offered during pregnancies. Some tests are routine, and are performed in order to detect certain
conditions. There are some tests that are offered to women who have an increased risk of
complications due to their age, lifestyle choices, and family history. Prenatal tests are used to screen
for and diagnose any present problems that may affect the baby or mothers' health. tests offered can
range from a small sample of easily obtained blood, urine, or cervical cells to less routine tests.
(Clinical Chemistry & Laboratory Medicine, 2014) There are two types of prenatal tests that are
used during pregnancy. Screening tests are one of these types of tests. Screening tests are usually
safe and inexpensive, and are offered to all pregnant women. These tests are

Down Syndrome Essay
Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome
21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21
or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.
Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then,
once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of
the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down
syndrome patients have this type. People with Trisomy usually have physical problems. Mosaic
Trisomy 21 happens when an egg or sperm come in with an extra copy of chromosome 21, then, ...
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Also, there is a greater risk of a child having Down syndrome if the mother is over 35 years old.
There are three ways that a mother can be tested during pregnancy to see if their child will have
Down syndrome. One is amniocentesis, which is the removal and analysis of a small sample of fetal
cells from the amniotic fluid. Amniocentesis can not be done until the 14–18th week of pregnancy
and with this process there is a lower risk of miscarriage than with the other two processes. Another
process is chorionic villus sampling (CVS), which is the extraction of a tiny amount of fetal tissue at
9 to 11 weeks of pregnancy. The tissue is then tested for the presence of extra material from
chromosome 21. Chorionic villus sampling has a 1–2% chance of the mother having a miscarriage.
The last process is percutaneous umbilical blood sampling (PUBS), which is the most accurate
method used to confirm the results of CVS or amniocentesis. During PUBS the tissue is tested for
the presence of extra material from chromosome 21. PUBS cannot be done until the 18–22nd week
and it carries a high risk of the mother having a miscarriage.
A person that has Down syndrome may have some physical problems or disabilities. Some common
physical problems are: short necks, poor muscle tone, a small head and an overall smaller body.
Approximately one third of babies born with Down syndrome have heart defects, most of which are
now

Cystic Fibrosis Research Paper
Introduction
Cystic fibrosis (CF) is a disease that affects many different parts of the body. CF is often considered
a lung disease, and breathing (respiratory) failure is the most serious problem related to the
condition. But CF can also affect other parts of the body, including the skin, pancreas, liver,
intestines, sinuses, sweat glands, and sex organs.
Cystic fibrosis is caused by an abnormal (mutated) gene that is passed from parent to child
(inherited). This gene causes the body's secretions to thicken. When mucus in the lungs becomes
thick and very sticky, this causes difficulty breathing and frequent lung infections.
How is cystic fibrosis inherited?
The CF gene is called cystic fibrosis transmembrane conductance regulator (CFTR). It is possible to
have the CFTR gene without developing the ... Show more content on Helpwriting.net ...
When a person can pass along the CFTR gene, but the person does not have CF, this person is called
a CF carrier.
If both parents are CF carriers, each child has a one in four chance of having CF.
If a mother has CF and a father is a carrier, each child has a one in two chance of having CF.
If neither parent has the CFTR gene mutation, no child will have CF.
Who should be tested?
It is possible to check for CFTR genes by looking at cell chromosomes (genetic testing).
All women should be offered genetic testing during child–bearing years. It may be done before
pregnancy or during pregnancy.
If a woman tests positive and is a CF carrier, her male partner who is or may become the father of
her child should be tested.
If a man and woman are both CF carriers and the woman is or becomes pregnant, the baby in her
womb should be tested for CF (prenatal testing).
All states in the U.S. test newborns for CF. Some states use genetic testing.
Any child or adult with symptoms of CF or a family history of the condition may be tested. This
may be done along with other nongenetic

Biol 460 Week 2 Research Paper
Lauren Yi
Dr. Kerscher
BIOL 460 – GGPO
11/22/2016
Final Research Paper Draft
Abstract The discovery of free fetal DNA circulating in maternal blood during pregnancy
revolutionized noninvasive prenatal diagnosis. Advancements in prenatal diagnosis in the past
decade have enabled clinicians to accurately diagnose genetic abnormalities in the fetus earlier and
without risk of miscarriage as is associated with amniocentesis and chorionic villus sampling.
Sequencing and analysis of the fetal genome has not only improved prenatal diagnosis of
chromosomal aneuploidies, but also subchromosomal aberrations and monogenic disorders. This
lends parents earlier and more specific information that may guide their decisions during pregnancy
to benefit ... Show more content on Helpwriting.net ...
However, analysis of intact fetal cells for detection of aneuploidies and genetic disease shifted away
from this when in 1997, Lo et al. first reported the presence of fetal DNA circulating in maternal
blood. Free fetal DNA (ffDNA) along with RNA (ffRNA) have opened the door to a multitude of
downstream analytical techniques of the fetal genome and transcriptome. Because ffDNA can be
isolated through noninvasive methods––all one requires is a sample of maternal blood––clinician–
scientists have focused on improving diagnostic methods with ffDNA. Currently, ffDNA is used in
the noninvasive diagnosis of Rhesus blood group genotype, sex determination, fetal aneuploidies,
and other genetic disorders (Bianchi,

Social Ignorance Of A Child With Down Syndrome
It is a common belief that certain things will never happen to us. We often convince ourselves that
the odds will never reach us or the ones we love. This statement remains true for the likelihood of
the effects of down syndrome. Although the syndrome is often misunderstood, it is very true that
those affected by it lead a very active and healthy life. I, myself am guilty of the social ignorance of
down syndrome, that is until my cousin Joby was diagnosed with down syndrome. Over the past two
years I have watched my cousin blossom into an outstanding curious child with a passion like no
other. Down syndrome is classified in several different forms such as the causes, diagnosis, and how
it affects one's life . The causes of down syndrome ... Show more content on Helpwriting.net ...
Some of the obvious feature that occur is small ears, flat facial profile and slanted eyes. Some of the
less common features are small lips, poor muscle tone, legs and arms are shorter than the rest of the
body and lastly the neck appears shorter than usual. Many of these features are very noticeable but
some aren't. People with down syndrome have to learn to work around these disabilities to live a
normal life, and most patients do. ("Facts about Down syndrome") In conclusion, down syndrome is
a very serious condition. It has its rough patches along the way but most of the down syndrome
patients live a very active life. Today, down syndrome patients are going to school, in sporting
activities and many are getting into college now. Many people look down on down syndrome and
don't really stop to think what they are taking for granted. Most down syndrome patients are very
appreciative about the little things and many people should follow in their

Trisomy 13: Patau Syndrome
Aneuploidy is when there is a deletion or duplication of a single chromosome (Pierce, 2013, p. 159).
Alteration in the number of chromosomes can affect the health of an individual. One good example
of aneuploidy is the Trisomy 13, also known as Patau syndrome. This condition is caused by an
extra 13thchromosome, instead of the normal two copies. It occurs in about 1 out of every 10,000
newborns and affects female slightly more than the male. Babies who are born with this disorder
have many abnormalities. Affected infants will present with intellectual and physical abnormalities
that include brain and spinal cord abnormalities, heart defects, kidney defects, and extra fingers or
toes. Their head is smaller than the normal baby, they have cleft

Forensic Screening Examples
. Examples of carrier screening include sickle cell anemia, Tay–Sachs disease, duchenne muscular
dystrophy, hemophilia, Huntington's disease, and neurofibromatosis. Forensic screening seeks to
discover a genetic linkage between suspects and evidence discovered in criminal investigations. This
is a very powerful tool to clear the innocent and convict the guilt. Since DNA is unique, many
people are reluctant to see such information become part of any national database, which might
include information not only about identity but also about proclivity toward disease or behavior.
Susceptibility screening involves the screening of selected populations for genetic susceptibility to
environmental hazards. Helps to identify workers who may be susceptible

Prenatal Assessment Risks Paper
Prenatal Assessment Risks
Modern day technology has taken the "surprise" out of pregnancy for a large number of parents if
they choose to utilize it. An option parents might explore is having a prenatal assessment to
determine if there are any identifiable genetic abnormalities in the unborn child. There are risks
associated with certain procedures such as false positive results, procedure induced miscarriages or
possible fetal limb abnormalities.
The alpha–fetoprotein (AFP) assay is a blood test that can detect spina bifida and certain
chromosomal abnormalities by determining the level of the protein found in the mother. An AFP
article on "VeryWell.com" states, "some claim they have only a 5 percent "false positive" rate, most
research finds that there is actually an 80+ ... Show more content on Helpwriting.net ...
The procedure is similar except it "sucks out some threadlike projections (villi) from the outer
membrane that envelops the amniotic sac and fetus" (Rathus, 2015) rather than fluid from the
amniotic sac. It carries a slightly higher percentage (.7) for miscarriage than an amniocentesis but, it
is performed earlier in the pregnancy than a typical amniocentesis which might explain the increased
miscarriage probability. The Mayo Clinic states, "Some older studies suggested that chorionic villus
sampling might cause defects in a baby's fingers or toes. However, the risk appears to be a concern
only if the procedure is done before week 10 of pregnancy" (Mayo Clinic Staff, n.d.).
Modern medicine continues to bring new technology to its patients and is steering in the direction of
"Science Fiction" in some areas. Every individual has to decide if prenatal testing "works" for them,
if the result is worth the risk of induced stress, miscarriage and/or fetal limb abnormalities. Psalm
127:3 in the Bible says, "Behold, children are a gift of the LORD, The fruit of the womb is a

Genetic Disorders Case Studies
Beth has a few options to determine if her baby is at risk for having a genetic disorder. The first step
Beth can take is visiting her gynecologist. While there she can start to discuss her concerns, and go
over her options. She can go through genetic counselling and then move onto ultrasounds and
amniocentesis. If further tests warrant she can do chorionic villus sampling or CVS.
Beth can go through genetic counselling which is where she can discuss her family medical history
and this will determine whether or not her baby is at risk. This is where the counselor takes into
consideration any diseases or problems that run in the family. They then can determine if one of the
parents is a carrier and their genotype by doing blood work. Both Beth and her husband will be able
to obtain the correct information if their child could contract a genetic disorder. With this
information, they can make a decision on the next step. ... Show more content on Helpwriting.net ...
Beth can also go through a procedure known as amniocentesis. Amniocentesis where they insert a
needle into the mothers' abdomen and retrieve amniotic fluid. With the amniotic fluid they can do
testing to determine the genotype of the fetus Finally, she could also do chorionic villus sampling or
CVS. This test is normally performed in the beginning of pregnancies. A needle is inserted into the
vagina through the uterus to obtain a sample of cells from the placenta. The sample is then again
sent to a lab to be tested. With both amniocentesis and CVS, they can determine over 200 genetic
disorders. With both procedures, there is a risk of miscarriage, but is it extremely

The Enzymes And Its Effects On The Concentration Of...
PATHOPHYSIOLOGY
ADA is a part of the purine salvage pathway which functions to rid the cells of deoxyadenosine.
Adenosine deaminase is considered a critical enzyme that consists of a 12 exon, 32 kb gene located
on chromosome 20q13–q13.1, is a 42 kDa protein with 363 amino acid. Adenosine deaminase
produces the irreversible deamination of adenosine (Ado) and deoxyadenosine (dAdo). The enzyme
Ado is further converted to inosine and and the enzyme dAdo is converted to non–toxic molecule
2'–deoxyinosine. Most adenosine responsible for breaking down adenosine 5 '–triphosphate (ATP)
and the degradation of ribonucleic acid (RNA).The lack of the ADA enzyme leads to the pathway
become inactive and the build up in the amount of adenosine in the ... Show more content on
Helpwriting.net ...
These individuals are referred to as having CID, or leaky SCID and may have less severe infections
than those with SCID.1
DIAGNOSIS
Adenosine deaminase deficiency is usually diagnosed between six months of age and a year.
Prenatal and newborn screenings can discover the ADA deficiency.1 Usually newborns that have a
family history of SCID are screened. However, as early identification of SCID can result in life–
saving interventions before infections occur, many states have added SCID to their newborn
screening panel. A test for ADA deficiency usually demonstrates the low number or absence of ADA
activity in red blood cells. ADA deficiency is diagnosed when there is <1% of normal ADA catalytic
activity in lysates of washed red blood cells from heparin or EDTA anticoagulated blood, reduced
S–adenosylhomocysteine hydrolase activity and elevated urinary deoxyadenosine nucleotides in red
blood cells and very low T, B and NK lymphocyte counts in peripheral

Why Should We Have Mandated Early Intervention And Early...
Alexis Smith
Professor Lehr
SE 504
25 October 2016
Final Exam
Why should we have mandated early intervention and early childhood education for children with
disabilities and their families? Provide a rationale for each. 8 pts.
The benefits of early intervention (EI) and early childhood education (ECE) are very clear. They
help improve children's skills, knowledge, and way of navigating the world while having some form
of a disability. EI is usually provided in the child's home, giving their family the opportunity to learn
more about their child and how to assist in creating a better life for him/her. It also gets the entire
family involved in the care of the child, which is important for parents who feel that they may not be
able to make a difference in their child's life or for parents who believe it is their fault that their child
has a disability. Through education and services provided, the family will be able to function as
efficiently as would a family who doesn't have a member with a disability.
Early childhood education is especially helpful for each individual child with a disability. It puts
them in a place of inclusion while improving their language and social skills and gives them a place
outside of the home to achieve goals that are more individualized and about them rather than their
family. Being in an inclusive environment with peers their age would increase their social skills and
help them to navigate the world around with less barriers. These skills

Global Down Syndrome Foundation
The Global Down Syndrome Foundation Is a public, non– profit organization that is a resource for
Down syndrome and is involved in research medical care an education and advocacy of people with
the condition. The organization provides information on the history of the condition including
revolutionary genetic testing and advances in testing. The foundation also provides resources for
pregnant mothers, families, medical personnel and educators.
The foundation provides detailed history about the syndrome, history, statistics and advances in
genetic testing . Down Syndrome was named after John Langdon down, an English doctor, who
classified Down syndrome features. Down Syndrome is a congenital genetic disorder, characterized
by three copies ... Show more content on Helpwriting.net ...
Pregnant women of advanced maternal age, during routine prenatal care, are offered genetic
screening and testing for chromosomal anomalies. Misconceptions exist with genetic testing. Many
women are misinformed about the risks of testing. The fear of testing, implications, results and
miscarriage exists in many women. The Global Down Syndrome Foundation and the National Down
Syndrome Congress in an effort to provide comprehensive information to women, created the Down
Syndrome Prenatal Testing Pamphlet., a commonly used resource. Risks are generally associated
with advanced maternal age, already having a child with the condition and being carriers of the
genetic translocation for down syndrome. The global Down syndrome foundation addresses
common misconceptions surrounding people with down syndrome relating to their physical and
mental capabilities, and early demise. Common misconceptions affecting the family unit listed and
addressed by the foundation include the potential of a ruined marriage and potential for down
syndrome children to negatively impact siblings. Patient education and informed consent are
required before genetic testing can

Research Paper On Patau Syndrome
Adria Stelluto
Silvestri
Biology
21 February 2017
Patau Syndrome is a condition which a person has an extra Chromosome 13 or because each cell
contains an extra partial copy of the chromosome. A website states, "Patau Syndrome, or also known
as Trisomy 13, is a chromosomal condition associated with severe intellectual disability and
physical abnormalities in many parts of of the body" ("Trisomy 13 (Patau Syndrome)" 2016).
Individuals with Patau Syndrome often have heart defects, brain or spinal cord abnormalities, or
very small or poorly developed eyes. People with Patau Syndrome also may have extra fingers or
toes, a cleft lip, and a cleft palate, and weak muscle tone. Infants born with the disorder also have a
slow rate of growth due to problems feeding. The conditions are similar to Down syndrome and
Edwards syndrome including risk with the increased maternal age at pregnancy. At birth, Patau
syndrome might be mistaken for Edwards syndrome or Down syndrome. ... Show more content on
Helpwriting.net ...
Treatment varies from child to child and depends on the specific symptoms" ("Trisomy 13" 2017). If
the child survives, then surgery may be necessary to repair heart defects or cleft lip and cleft palate.
Physical, occupational, and speech therapy will help individuals with Patau Syndrome reach their
full potential in life.Treatment of children with Patau Syndrome depends on the patient's
circumstance. A concentration is on particular physical problems when each infant is born.
According to an educational website, "Patau Syndrome is diagnosed by a prenatal diagnosis.
Chorionic villus sampling is needed to make a definitive prenatal diagnosis. Cytogenetic of fetal
blood may also be carried out" ("Trisomy 13 – Genetics Home Reference" 2017). Patau Syndrome
can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells.
Patau syndrome occurs as a random event throughout the formation of both the eggs and

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

Birth Defect Research Paper
Use of Genetic Engineering to Stop Birth Defects Every year in the United States around 120,000
infants are born with defects(1). This means that 1 in every 33 babies are born with a harmful
defect(1). These children face many hardships throughout their lives. A birth defects is any physical
or biochemical abnormality that is present at birth and that may be inherited or the result of an
environmental influence. These defects can range from mild to severe based on each case. Children
born with defects do not normally live the average life span and their life is filled with challenges
and hardships. Birth defects are the leading cause for infant death in the United States. These
children get shunned in today's society. If or when they go to ... Show more content on
Helpwriting.net ...
The main two ways are environmental and genetic. Environmental defects are ones that are caused
by the infant's environment either in utero or after the birth. These could range from drug induced to
the toxins that are in the environment where the child is born. There are also multiple ways that birth
defects can be presented. The most common and accepted ones are structural and
functional/developmental birth defects. Structural abnormalities are defects that occur in the
structure or body parts of the infant (5). These could include cleft lip, heart defects, spina bifida, or
anyone that challenges the normal growth of the infant internally or externally.
Functional/developmental defects are associated with any abnormality that alters how a body part or
body system works (5). These most commonly lead to intellectual and developmental disorders. The
most common developmental defects are nervous system or brain problem, sensory problems,
degenerative disorders, and metabolic disorders (5). Both of these types of defect can dramatically
alter the child's life and lead to many surgeries and therapies. If genetic engineering was used to
alter the genetic material while these affected infants were in utero they could had been born
completely

Prenatal Counselling For Haemophilia Essay
PRENATAL COUNSELING FOR HAEMOPHILIA
Haemophilia is an inherited blood disorder in which the blood does not clot and the bleeding
disorders are due to defects in the blood vessels, the coagulation mechanism, or the blood platelets.
An individual who is suffering from the disorder may bleed spontaneously and doesn't clot or may
bleed for longer period as compared to normal, healthy person.
It is the condition where an individual is having deficiency of the clotting factor. When coagulation
factors are missing or deficient, the bleeding continues.
There are two main types of Haemophilia – Haemophilia A and Haemophilia B
Why do we need prenatal counseling?
Literature suggests that approximately 1 in 5,000 males are born with Haemophilia A and 1 in
30,000 males are born with Haemophilia B. ... Show more content on Helpwriting.net ...
She can pass the affected gene to her children.
Prenatal counseling helps parents and families to understand the diagnosis and its implications. This
is particularly important for the reproductive choices of the people who have haemophilia or are
carriers and want information about natural, assisted and non–reproductive opportunities available
for the family planning, and help early preparation for the possibility of having a child with
haemophilia.
So to avoid further complications and for a healthy pregnancy outcome with a healthy baby, prenatal
counseling about haemophilia is a good initiative to make the parents aware about the consequences
so that they are able to take an informed decision.
In developed countries, there are special genetic counseling departments who help the families to
become aware about the condition and to have improved outcome. The team consist of
haematologists or blood specialists, nurses, social workers, physical therapists and health care
providers who help the families to understand the condition, its prevention and treatment.
The prenatal tests for diagnosing

Prenatal Testing Persuasive Speech
A mother is in the hospital and she has just given birth to a handsome baby boy. However, she did
not know that her little boy would be born with Tay–Sachs disease. Tay–Sachs is an inherited
disease that destroys neurons in the brain and spinal cord. As the mother's child gets older, he will
suffer from the loss of his ability to use his motor skills. Eventually, he will lose his hearing and
vision, and could possible obtain seizures; he will probably not live past early childhood. But what if
this tragedy could be stopped? What if there were a solution to all of this suffering? There is a
solution, and the solution is called prenatal testing. Prenatal testing is a test that can be done on the
unborn child to detect things such as birth defects ... Show more content on Helpwriting.net ...
The first way that prenatal testing can be done is through something called a prenatal diagnostic test.
"In general, it is the diagnostic procedures, such as amniocentesis and chorionic villus sampling, that
people think of when they hear the term prenatal testing," (Press 1). Amniocentesis is when doctors
take a sample of the fluid that surrounds the baby in the uterus to determine certain genetic disorders
or chromosomal abnormalities. Chorionic villus sampling is when doctors take cells from
projections on the placenta to also discover any genetic disorders or chromosomal abnormalities.
These processes are considered "invasive" because they are putting objects that could potentially
hurt the baby into the protective area surrounding the baby. These ways of prenatal testing come
with a very negative feeling because they could possibly injure the baby, and the word invasive is
attached to a very negative connotation. However, these options can find more abnormalities and
diseases than non–invasive prenatal testing. "NIPT accurately diagnoses Down's syndrome,
Edward's syndrome, Patau syndrome, Turner's syndrome, and numerical chromosome aberration and
cannot detect other chromosomal anomalies," (Ryu & Kim 1). Even though this is true, NIPT is still
a very beneficial option to the mother and unborn child. NIPT usually uses a DNA sample to
determine chromosomal abnormalities that could lead to things such as Down's syndrome. The
procedure is done by the doctors taking a sample of the mother's blood to determine what types of
diseases and disabilities the baby will have. Many people like this type of prenatal testing because it
is not detrimental to the baby, or mother's health. "Studies investigating the acceptability of NIPT
suggest that pregnant women find it preferable because the standard screening is associated with
more uncertain results and

Tay-Sachs Disorder
Tay–Sachs disease (TSD) is a fatal genetic disorder resulting in progressive destruction of the
nervous system. Tay–Sachs is caused by the absence of a vital enzyme called hexosaminidase–A
(Hex–A
"Without Hex–A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in
cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive
damage to the cells."http://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/
Tay–Sachs disease results from defects in a gene on chromosome 15 that codes for production of the
enzyme Hex–A. The HexA gene is located on the long arm (q) of chromosome 15. Its location is
15q24.1, and its molecular location on chromosome 15 is base pairs 72, 343, 437 to 72, 376, 179. ...
During the next months – or even years – the baby will progressively lose the ability to see, hear,
and move. A red spot will develop in the back of the child's eyes. The child will stop smiling,
crawling, turning over, and reaching out for things. By age 2, the child may have seizures and
become completely disabled. Death usually occurs by the time the child is 5 years old.
In another, milder form of Tay–Sachs (called late–onset Tay–Sachs), the disease causes muscle
weakness and slurred speech, but sight, hearing, and mental capabilities remain intact.
http://kidshealth.org/parent/medical/genetic/tay_sachs.html#
Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus
sampling (CVS), in which a small sample of the placenta is drawn into a needle or a small tube for
analysis.
Between the 15th and 18th weeks of pregnancy, a woman can have an amniocentesis to test for the
Tay–Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the
amniotic fluid that surrounds the fetus.
Each year, about 16 cases of Tay–Sachs are diagnosed in the United States. Although people of
Ashkenazi Jewish heritage (of central and eastern European descent) are at the highest risk, people
of French–Canadian/Cajun heritage and Irish heritage have also been found to have the Tay–Sachs

Childhood Development : Down Syndrome Or Trisomy 21
"Keep calm, it's only an extra chromosome." These "Keep Calm" sayings are flooding our society,
however, some of them have more serious content behind them. This "Keep Calm" statement is
referring to a lifelong disorder known as Down syndrome or trisomy 21. Down syndrome (DS) can
affect multiple areas of a person's development both mentally and physically. This paper looks at
how to detect DS as early as the second trimester of pregnancy, the effects it has on early childhood
development, and the effects on a person's mental abilities.
First of all, it is important to define Down syndrome. Traditionally, people are born with 46
chromosomes, 23 from the mother and 23 from the father. Down syndrome usually occurs when a
person is born with an extra copy of chromosome 21. There are, however, other instances where
Down syndrome can take place. For example, a person with DS might have it where, "...an extra
broken piece of a twenty–first chromosome is attached to another chromosome (called translocation
pattern)" (Berk, 2014, p. 40), a parent can be a carrier of the disorder, or a mosaic pattern could
occur. A mosaic pattern is where a problem occurs in mitosis, resulting in some cells with defective
chromosomes (Berk, 2014). How, then, can a mother know if she has a child with DS? Older
women are more likely to have a child with DS, as it states in the book, Chromosomal
Abnormalities, "The risk for Down syndrome, for instance, jumps from one in 1,000 when the
mother is age

Adexna Uteri Essay
adexna uteri– fallopian tubes, ovaries, and supporting ligaments.
Amenorrhea– absence of menstrual flow
Amniocentesis– aspiration of a small amount of amniotic fluid for analysis of possible fetal
abnormalities
Amnion– Innermost membranous sac surrounding the developing fetus amniotic fluid– fluid within
the amniotic sac that surrounds and protects the fetus anovulatory– not accompanied by ovulation
(release of eggs from the ovary) areola– dark–pigmented area surrounding the breast nipple
Bartholin Glands– two glands located on either side of the vaginal opening that secrete a lubricant
during intercourse bilateral oophorectomy– removal of both ovaries cephalic version– pertaining to
the act of turning the head cervix– neck of t he uterus ... Show more content on Helpwriting.net ...
ovaries or testes.
Gynecology–study of the female reproductive system and its diseases
Gynecomastia–Abnormal development of breast tissue in males human chorionic gonadotropin–
hormone produced by the placenta to sustain pregnancy by stimulating the mother's ovaries to
produce estrogen and progesterone hymen–Mucous membrane partially or completely covering the
opening to the vagina hysterectomy–surgical removal of the uterus hysteroscopy– visual
examination of the uterus intrauterine device– contraceptive device inserted into the uterus that
prevents implantation of the fertilized egg involution– process by which the uterus returns to pre–
pregnant size 5–6 weeks after birth labia– lips of the vagina; labia majora are the larger, outermost
lips, and the labia minora are the smaller, innermost lips lactation– the production and secretion of
milk by the mammary glands lactiferous ducts– tubes that carry milk throughout the breast.
Lactogenesis– production of milk
Leucorrhea– white discharge luteinizing hormone– hormone produced by the pituitary gland;
promotes ovulation mammary– pertaining to the breast
mammary

Down Syndrome : A Congenital Disorder Arising From A...
Down syndrome is a congenital disorder arising from a chromosome defect, the chromosome
causing the problems is Chromosome 21. Down syndrome current affect about 1 in 600–800 live
births in the United States. There are about 400,000 Americans that have Down syndrome, with
approximately 6,000 babies are born with this disorder each year. The disorder is thought to form
during gametogenesis, during fertilization, or soon after fertilization (Daniilidis, et al. 2015).
Fertilization occurs when the sperm binds to zona pellucida, then the sperm undergoes acrosome
reactions which will lyses a hole in zona pellucida, and then the sperm and egg membrane fuse.
Once the membranes fuse, the sperms genetic material gets released and gets combined with the
egg's chromosomes, thus resulting in a 46 chromosome fertilized egg. This is the mostly likely
phase in which Down syndrome gets formed, since it is caused by a mistake in cell division during
the development of the egg, sperm or embryo. The mother or the father can be the origin in which
the extra partial or full chromosomes come from, but approximately only 5% have been traced to the
father. Maternal age is the only risk factor that has been linked to an increased chance of Down
syndrome. Down syndrome is not inherited, but 4% of translocation Down syndrome is inherited
(Mayo Clinic Staff). Down syndrome is characterized by three different types: trisomy 21
(nondisjunction), translocation, and mosaicism. The cause of Trisomy 21 is

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.

Prenatal Testing
Prenatal testing can help woman identify any unknown health problems that can endanger their
unborn child that may or may not be treatable. There are four main processes, non–invasive and
invasive, that will be evaluated being ultrasound, amniocentesis, Chorionic Villus Sample and
cordocentesis. Prenatal testing is used to detect changes in the foetus's genes or chromosomes. They
distinguish chromosomal abnormalities, monogenetic diseases caused by single gene mutations and
polygenetic diseases that are caused by mutations in several genes. Reasons for a karyotype analysis
or invasive prenatal testing are maternal age as the probability of chromosomal abnormalities
increase with maternal age, if an existing child of the couple's has a chromosomal ... Show more
content on Helpwriting.net ...
DNA is gathered and analysed within 24 hours, which abnormalities can be identified and used to
make more acceptable decisions about selective termination of the pregnancy.
Foetal blood sampling is the last method and known as cordocentesis or percutaneous umbilical cord
sampling (PUBS). This procedure is when a needle is being inserted into the umbilical cord and
foetal blood is taken and evaluated for metabolism and hematologic abnormalities (blood disorders).
The use of cordocentesis is decreasing since technology can now provide the same information from
tests that have smaller risk of miscarriage, such as amniocentesis and CVS, with limitations of
structural chromosomal abnormalities smaller than the achievable optical resolution to be
undetected.
ARGUMENT

The Cost Of Having A Baby
The Cost of Having a Baby Tiffany Jones November 16, 2014 HCM 615 Health Care Finance Dr.
Donald S. Brady There are many things in life are great gifts, and being a parent is one. Getting the
news that you are expecting a child is a speechless moment. It is a very joyful occasion and
everyone is happy about what to expect over the next nine months. Baby names start flowing and in
every magazine you are looking at outfits and furniture and things of that nature. But has anyone
stop to think about what is cost to have this baby? What medical expenses that will be incurred
during this forty weeks process. The answer is no. No one probably really cares but the hospital and
the insurance company. Now it's time to take a look at some of the cost behind the blessing of labor
and delivery. The amount that a mother will incur to have her bundle of joy will depend on many
different factors. One may take into consideration where you live, whether there are any
complications and whether mommy has a vaginal birth or a C–section. But just to take a glimpse
inside this world, here are a few figures that may surprise you. For prenatal care and delivery, the
cost in some areas can range from about $9,000 to over $250,000 (Alfieri, 2012), which is quite a
wide range, if not more. This is without the privilege of having insurance to cover. Even with the
privilege of having health insurance, the majority of these expenses could be covered, but that's not
always the case. It

Gnt1 Tay Sach's Essay
Tay–Sach's Disease Case Study
Stephanie deDianous, RN
Western Governors University
Tay–Sach's Case Study
The purpose of this paper is to discuss the hereditary genetic disease Tay–Sach's, discovered during
a pregnancy. The discussion will focus on developing an interdisciplinary team and care plan for the
expectant parents based on their wishes. This paper will also cover any ethical and/or legal
dilemmas that may arise as well as identify counseling needs of those involved. In addition, there
will be a personal reflection about high risk pregnancy, abortion, and the decision made by the
expectant parents.
Background
This study involves a married couple who after two years of trying to conceive a child became ...
Signs and symptoms of the disease do not begin to surface until the child is around six months of
age and it begins with gradual dysfunction of the motor skills. As the nervous system further
degrades the symptoms become worse and the child loses sight, hearing, and mental functionality.
Unfortunately there is no treatment for Tay–Sach's except comfort measures and the life expectancy
for a child with infantile Tay–Sach's disease is typically four to five years (Ainsworth, 2011). The
physician would need to emphasize that maternal age or lifestyle does not have any part in the cause
of this diagnosis. The physician would then need to explain the options available at this time which
are carrying the child to term or terminating the pregnancy via therapeutic abortion (Tay–sachs.org).
Depending on the parent's decision, should they choose to carry the child, they can also choose to
care for the infant or place it for adoption. After the physician has spoken with the family, the RN
would need to be there for the family, not only to listen, but again to answer any questions they may
have.
Mr. and Mrs. Trosack have decided to carry their infant to full term and care for their child due to
their religious beliefs. At this time the RN would be responsible to clarify and document the parents'
wishes. The RN would be responsible for coordinating appointments with the specialists that

The Controversial Topic of Genetic Testing
Genetic testing has become a highly controversial issue among both the general population and the
scientific community. It is a process that exposes a person's entire genome sequence, allowing it to
be read and evaluated to identify potential risks for genetic diseases or diseases that could be passed
onto offspring (Holt Productions, 2012). With thousands of genetic tests already being used, and
more being established, it seems logical to put this growing technology to use. Some agree that it is
a person's right to know and understand his or her genetic makeup. However, others argue that,
despite the benefits of genetic testing, caution should be used to carefully inspect the risks
associated with this new technology.
Relatively simple ... Show more content on Helpwriting.net ...
Embryonic screening allows for the elimination of inherited diseases before birth or a treatment plan
before birth. In breast cancer patients, genetic testing allows the physician to know if chemotherapy
is necessary, which would expand treatment options. Genetic testing could eliminate years of
experimental testing and medication use used to diagnose a new disease. Overall, genetic testing is
in alignment with the core medical philosophy that early prevention leads to early treatment, which
leads to an overall better outcome for the patient.
The opposing side argues, however, that society is not ready for this technology. People may not be
capable of handling the emotional or psychological stress associated with genetic testing. Results
may vary between genetic testing companies and many variables, such as sampling errors, could
lead to a false positive or false negative test. Further, it is possible that some people may interpret
the seriousness or implications of their results incorrectly. This could result in people making
unnecessary, and even dangerous, lifestyle changes. For example, if a person is told that he or she
has a 60% of being diagnosed with breast cancer, that person may undergo preventative surgery to
avoid the disease; however, such surgery may have been unnecessary, as the person may never have
developed the disease.
Additionally, as the popularity of genetic testing increases, some fear that a

The Pros And Cons Of Aneuploidy Testing
Chromosome aneuploidies are common genetic defects that can lead to diseases such as Down
syndrome. Current methods of aneuploidy testing exist, primarily in the form of chorionic villus
sampling or amniocentesis. Although precise, these tests are invasive and may result in intrauterine
infection and miscarriage.
Of recent, fetal genetic material, found in maternal blood, has been used to screen for fetal
aneuploidy in high–risk women. This allows a potentially safe and easy means for detecting
chromosomal abnormalities during pregnancy by means of a simple blood draw. However,
limitations of cell–free DNA screening performance creates issues for expecting parents. Failure of
cell–free DNA screening ranges from approximately 1% to 8% and ... Show more content on
Helpwriting.net ...
Maternal mosaicism, undetected tumors, the vanishing twin syndrome, and confined placental
mosaicism, as well as technical errors, are possible causes of NIPS false–positive results. However,
correct identification of the causes and eliminating the false–positives of NIPS may improve the
PPV.
Using MPSS with GC sequence bias corrections, the authors developed a wide separation of Z–
score thresholds for affected and unaffected pregnancies. Affected pregnancies had a Z–score >8 and
unaffected pregnancies had a Z–score 4. Further investigation led to the correct identification of the
abnormality due to maternal microduplications and global maternal copy number variation.
Although rare, these causes for NIPS false–positive results could be identified using the new
detection screen and improve the PPV.
Unfortunately, the authors report that 10% of the women in the trial that received positive NIPS
results for trisomy 21 elected to terminate the pregnancies without confirmation by amniocentesis.
They remark that biological and technical issues can still account for false–positive results and that
NIPS should remain a screening test

The Von Hippel-Lindau Syndrome
Topic: Von Hippel Landau Disease
Symptoms: Include a discussion of symptoms in individuals heterozygous vs. homozygous for the
defective gene if appropriate.
Von Hippel–Lindau syndrome is caused by heterozygous mutation in the VHL gene
The symptoms of von Hippel–Lindau syndrome are angiomata of the retina (i.e. a tumor consisting
of a mass of blood vessels in the retina) and hemangioblastoma (i.e. a tumor) of the cerebellum.
There also may be a tumor – Hemangioma in the spinal cord. Pheochromocytoma occurs in some
patients. This is indicated by one or more of the following symptoms:
Skin sensations
Flank pain
Elevated heart rate
Elevated blood pressure,
Palpitations
Anxiety often resembling that of a panic attack
Diaphoresis (excessive sweating)
Headaches
Pallor
Weight loss
The most common symptoms are headache, excessive sweating, and increased heart rate. The
combination of hypertension with angioma may lead to subarachnoid hemorrhage (i.e. bleeding in
the brain).
People with the syndrome also commonly develop cysts in the kidneys, pancreas, and genital tract.
About 10% of people with the disease develop noncancerous tumors in the ear which can lead to
loss of hearing in the ear as well as ringing in the ears (tinnitus) and loss of balance. (Genetics Home
Ref. Von Hippel–Lindau syndrome)
Diagnosis: Describe in detail the test or tests use for the prenatal and postnatal diagnosis of the
disease. Give general background information about

Turner Syndrome Research Paper
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 Y chromosome 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

Chromosomal Abnormality: Triple X Syndrome
XXX syndrome is also called triple X syndrome or trisomy 47 or 47. Triple X is a chromosomal
abnormality. In this abnormality the female has an extra X chromosome in each of her cell. Normal
female will have two X chromosomes which it will receive one from dad and the other one from
mom, however a female with this abnormality will have three X chromosomes. The sexual
development for these females with the abnormality is normal and they are able to give birth to a
baby with no problems. Some of the symptoms are that the female will be tall, but may have a small
head which is known as microcephally. She will have speech and language learning disabilities or
weak muscle tone such as hypotonia. Female will show sign of puberty more than normal ... Show
more content on Helpwriting.net ...
Ten percent of female with this abnormality might experience seizures or kidney problems. Triple X
abnormality occurs around in 1 out of every 1000 girls. In USA, it is show that 5 out of 10 girls are
born with triple X syndrome each day. Triple X syndrome is not inherited from parent; it is a
disturbance that occurs during the formation of the reproductive cells. The syndrome can result from
a failure of mistake in the formation of the father's sperm cell or mother's egg. In few cases it is
usually when something goes wrong in the development of the embryo, as triple X syndrome are
usually caused by a malformed egg or sperm, which gives the female an extra chromosome, so
instead of her having 46 chromosomes she now has 47. There is no treatment for this syndrome, as
you can't really remove an extra chromosome out of a female's body, however there are something's
that can be done to improve the victim's life and reduce the symptoms. You can diagnose triple X
syndrome before the baby is actually born through Chorionic villus sampling or amniocentesis and
after a baby is born with a blood test. The victim can see different therapists such as speech,
physical, occupational and

Osteogenesis Imperfecta Research Paper
Living with Osteogenesis Imperfecta can have multiple effects on people. There are 8 known types
of OI. The severity of OI is determined by what type the person has. People with Osteogenesis
Imperfecta type 2 have it the worst due to it being the most severe type. To know if an unborn child
is going to have OI the doctors do ultrasounds to look for the more severe types. Other test done to
look for OI are chorionic villus sampling and amniocentesis examine cells from the unborn child for
collagen defects or a genetic mutation. Babies born with type 2 OI commonly die within weeks or
days of delivery, few babies survive any longer. Babies born today with OI have a good chance of
leading independent and successful lives. As the child grows older

Birth Defects Of Babies Are Serious Functional Or...
Birth defects in babies are serious functional or structural abnormalities that are present at birth in
3%("approximately 120,000"(Simeone 1104) ) of infants in the United States each year. There are
quite a few different types of defects that you may not even be able to see on the infant at first. It
could be something developmental that will only get worse as they get older. If you believe that
birth defects are only caused by women doing illegal drugs and drinking while pregnant, you're
wrong. It could be a complete genetic disorder that the baby has inherited or a chromosome problem
where the baby is missing even just a part or a whole chromosome and in some cases gains an extra.
Sometimes before the baby, is born you are able to do ... Show more content on Helpwriting.net ...
It could be very mild and be solved with therapy, or there are some extreme cases that need surgery
as soon as the child is born. Spina Bifida is another common structural defect that is very serious
and it messes with spine. There is a three different types of spina bifida; the first type is
Myelomeningocele which is where the baby 's spine doesn't completely close. "With this condition,
a sac of fluid comes through an opening in the baby's back. Part of the spinal cord and nerves are in
this sac and are damaged. This type of spina bifida causes moderate to severe disabilities." (CDC)
The next type is meningocele this has some similarities to the first type with the sac but with this the
spine isn't in the sac, this type will only have some minor disabilities. The final type is Spina Bifida
Occulta which is the more mild out of the three. This is where there is only a small gap in the baby's
back with no sac. This is harder to find in infants usually is isn't even discovered until people are
young adults, not many disabilities are caused by this type. There is not only common structural
defects, but also developmental or functional defects. A well known type that affects the nervous
system is Down Syndrome. This is when people either have an extra piece on a chromosome or they
have a whole extra chromosome number 21. "It is the most common chromosomal cause of mild to
moderate intellectual disabilities. People

Turner Syndrome Research Papers

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