Chronic Leukemia Investigation

Chronic Leukemia Investigation
Investigations of Chronic Myeloid Leukemia
History and physical examination:
Full medical history of the patient is very important and it will help in diagnosis (past history, family
history, ...)
Also some sings in physical examination may help and direct the doctor to the diagnosis like
enlargement of spleen and liver.
Tests to diagnose CML (1–4)
Tests to analyze the blood(1–4) Tests to analyze marrow cells(1–4) Genetic tests(1–4)
1. Complete blood count (CBC)
A peripheral blood usually taken in this test.
This test used to measure the number of WBCs, RBCs, and platelets.
WBCs will be given in details. Which means the count of all types of white blood cells. This known
as (CBC with differential).
The patient will usually have: ... Show more content on Helpwriting.net ...
The ABL gene from chromosome 9 joins to the BCR gene on chromosome 22, to form the BCR–
ABL fusion gene. The changed chromosome 22 with the fusion gene on it is called the Philadelphia
chromosome 1. Cytogenetic analysis:
Used to see any chromosomal changes under the microscope. The samples are usually blood or bone
marrow. This samples will be assessed and in patient with CML it will show the Philadelphia
chromosome(shortened chromosome 22) normally we have 23 pairs of chromosome in certain sizes)
This test takes time.
2. Fluorescent in situ hybridization ( FISH)
This test uses a special fluorescent dyes that only attach to specific genes of parts of chromosomes.
In diagnosis of CML this test used to look for BCR–ABL gene ( fusion of chromosome 22 and 9 )
Quicker than the conventional cytogenetic analysis 3. Polymerase chain reaction (PCR):
This test also to detect BCR–ABL gene.
This test is super–sensitive so it can detect even the small amount of BCR–ABL gene before the
Philadelphia chromosome can be detected in cytogenetic test.
It can be used after treatment to see if copies of the BCR–ABL gene are still there "if BCR–ABL
still there, so leukemia still
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One Of The Most Common Types Of Down Syndrome
Cells are the basis for human life. During conception, a sperm cell joins a fertile egg to begin the
process of procreation. Contained in the nucleus of these cells are a threadlike structure made up of
acids and proteins called chromosomes which carry genetic information. Each human cell contains
23 pairs of chromosomes in each cell for a total of 46 chromosomes (Wiseman et al., 2009). When a
sperm cell with 23 chromosomes and an egg with 23 chromosomes unite, they begin to form a fetus
with appropriate genetic makeup. In some cases, however, sperm cells and eggs have extra
chromosomes which result in genetic disorders. Down syndrome is one of the most common genetic
disorders in humans and is the result of an abnormality of chromosome 21 (Patterson, 2009). ...
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The deficiency is named after John Langdon Down, a doctor who first described the condition in
1866 (Hickey et al., 2012). There are several ways Down syndrome occurs. The most common type
of Down syndrome occurs when chromosome 21 fails to separate during development, producing an
additional copy of chromosome 21 called trisomy 21. During formation of sperm and egg cells,
chromosome 21 fails to separate, which produces the additional chromosome 21, and the cell
contains 24 total chromosomes. When the affected cell is joined with a normal sperm or egg the
fetus has 47 chromosomes with three copies of chromosome 21 (Patterson, 2009). The origin of the
additional chromosome 21 comes from the mother about 88% of the time, 8% of the time from the
father, and 3% after the sperm and egg cell have joined (Natoli et al,

Trisomy 18 Essay
Edward's Syndrome or also known as Trisomy 18 is a very serious and uncommon disorder, and
there are three types of this disorder: Full, Partial, and Mosaic Trisomy 18. Trisomy 18 is a
chromosomal condition that affects not only one part of the body, but usually many different limbs.
Five to ten percent of the individuals with this disorder can live their lives with it, but they have to
deal with severe disabilities. Since Edward's Syndrome is not common, there are only a few
solutions for the disease (Weiss 2012).
The symptoms of Trisomy 18 vary from person to person, but they are all cause a physical defect or
disability. Abnormally small sized heads, small mouths and jaws, and clenched fists with their
fingers overlapping are some ... Show more content on Helpwriting.net ...
Trisomy 18 cannot be cured because you cannot fix chromosomes but only can fix the defects that
occur because of the chromosomal disorder. This disorder is a problem with the number of
chromosomes a person is born with. The 18th chromosome is half duplicated causing birth defects
and problems in their development, also allowing only for a short lifespan. This disorder is not
inherited, but instead happens randomly when the chromosomes of the mother and father combine
and a third chromosome 18 is formed. There is no known cause for why this extra chromosome
develops in the fetus. Edward's Syndrome is the second most common of the trisomy disorders,
following Trisomy 21 (Down syndrome), but does not happen very often in developing fetuses. It
occurs once in every 5,000 live–born infants, and most of these infants are female. Many times, the
fetus that is affected with this disorder will not make it the full nine months. Other times, if the
infant is born with the disorder they will only live for about a month or less. This disorder is seen
more often when older women are pregnant, rather than young mothers. 10 percent of individuals
with trisomy 18 will live past the first month, and some can even live into their twenties with severe
developmental conditions and disabilities. The actual

Down Syndrome Research Paper
What are the signs and symptoms of this disorder? A lot of people have heard of Down Syndrome,
but are unclear about what it truly means. Down Syndrome is when children are born with an extra
chromosome. Specifically chromosome 21 that gets affected. During pregnancy, there are no signs
that their child will have Down Syndrome. Doctors can only make educated guesses if they believe
that the child will have Down Syndrome. The children that end up being born with Down Syndrome
will have physical features such as having a tiny neck, a fat tongue, tiny head, weak muscles, eyes
that look like raindrops, and having a flat face.
At what age do symptoms start to appear? The symptoms of Down Syndrome start to appear when
the child is just born. That is when the physical features are seen. The tiny neck, raindrop eyes, flat
face, etc. are a huge factor in helping determine if the child is born with Down Syndrome. Some
children who are born with this terrible syndrome are born with heart defects. These heart defects
can be severe for ... Show more content on Helpwriting.net ...
On the bright side, there are treatments that take its place that can help ease the disorder. To start off
with, it is recommended that those who are born with this syndrome start learning earlier in life.
This will help them catch on to many skills such as cognitive, sensory, learning, and social. Sadly, it
takes almost 2 times as long for them to surpass the process. Those without Down Syndrome can
easily learn these skills in a flash. It is necessary that the child gets physical education since those
who are born with this syndrome are prone to gaining weight and can not lose it so easily. After a
few years, the child is sent to doctors and therapists who will guide the child to a more productive
environment where they will progress efficiently. Slowly but surely the child with Down Syndrome
will struggle less with the disorder and learn to live with it

Klinefelter Syndrome Advantages And Disadvantages
CHROMOSOMAL ABNORMALITIES
A) NUMERICAL CHROMOSOME ABNORMALITIES
1) Klinefelter Syndrome
This syndrome was first described by Harry Klinefelter in 1942 as a clinical condition with small
testes, azoospermia, gynecomastia and an elevated serum FSH. (56) Only in 1959 was the
chromosomal basis of the disorder described. Subsequently the diagnosis of Klinefelter syndrome
has required the demonstration of the 47,XXY karyotype or one of its rarer variants. (57)
The prevalence of Klinefelter syndrome appears to be approximately 1 in 660 males, and recent data
suggest a rising incidence over the last decades. (58) It is the most frequent form of primary
testicular dysfunction affecting spermatogenesis as well as hormone production and is found in ...
(66) The rate of diploidy of sperm as well as disomy for gonosomes and autosomes seems to be
increased in patients with Klinefelter syndrome, however, the majority of sperm appear to be
normal. (67) Preliminary data suggest that in about 20 – 50 percent of patients with Klinefelter
syndrome it may be possible to retrieve sperm by TESE. (68) Several pregnancies have been
achieved with testicular sperm used for ICSI. The embryos show normal or aneuploid karyotypes
which can be identified by preimplantation or prenatal diagnosis. Interestingly, the birth of normal
children conceived by assisted reproductive techniques seems to be rule, suggesting that the few
sperm which can be found in about 50% of patients with Klinefelter syndrome possibly derive from
the clonal expansion of spermatogonia with unremarkable karyotype problems.

Characteristics Of A Chromosomal Disorder Essay
A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This
type of disorder may also be caused by structural changes within these chromosomes; this is known
as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of
which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since
its first identification in 1866, researchers have become more knowledgeable about the etiology of
Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down
syndrome, he or she will begin to understand multiple chromosomal disorders. Typically, the
nucleus of each cell stores forty–six chromosomes. Half of these chromosomes derive from each
parent cell. However, in those with Down syndrome, the cells contain forty–seven chromosomes.
Researchers' knowledge of the etiology of Down syndrome has grown since it was first described in
1866 by John Langon Down (National Down Syndrome Society, 2012). According to the National
Down Syndrome Association (2012), 95% of the Down syndrome cases are caused by a fault in cell
division. Although it is clear that this disorder occurs because of an alteration during cell division,
the cause as to why this occurs is unknown. However, the pathogenesis of this disorder is clear. The
pathogenesis of this disorder begins with nondisjunction during meiosis, which is failure of the
chromosomes to separate. Today, it is known that there

Older Women Having Babies Essay
Nicole is sitting in the doctor's office for the first time. She is waiting patiently as the small round
clock in the corner of the room ticks away at a snails pace. She suddenly hears footsteps coming
from the other side of the door. Nicole puts her sweaty palms together as she sees the doctor enter
the room with some blue papers in his hands. The doctor quickly looks at Nicole then turns away
clearing his throat, "I have examined the test results that we just completed; you are pregnant but
there are some complications." "Complications? What do you mean doctor? I'm healthy. I've been
healthy all my life. I never had a problem getting pregnant. What could be the problem?" "Well, you
are pregnant with your first child at the age of 37. ... Show more content on Helpwriting.net ...
Chromosomes contain genetic information that is passed down from the parents to the child. The
possibility of a mistake during cell division rise as a woman ages, therefore; the chances of
chromosomal dysfunction increases. "All genetic abnormalities increase as the egg gets older."
(Cohen, and Bonifield) Each female is born with a certain amount of eggs, these eggs do not
multiply and you cannot add more. During each menstrual period a female loses one of her eggs,
and these cannot be replaced. As a female gets older so does her eggs, therefore, during the division
of cells it leaves a lot of room for mistake. If the chromosome pair does not split and separate the
egg will have 24 chromosomes not the 23 that are needed. The difference of only one chromosome
can change the faith of the child from being normal to having down syndrome. "In the 1st trimester
miscarriages occur because of chromosomal abnormality in the fetus." ("Childrens Hospital of
Philadelphia") As a result, older woman have a much higher chance at some chromosomal disorder
when they are having children at an older age. "Down syndrome is a genetic disorder caused by an
error in cell division." (Cohen, and Bonifield) As explained above, it is the

Assignment On Chromosomal Abberations And Down Syndrome
TERM PAPER EVALUATION
ON
CHROMOSOMAL ABBERATIONS AND DOWN SYNDROME GUIDED BY: SUBMITTED BY:
Dr. SANJEEV KUMAR (Sr.) SHRUTI DHAMEJA
BSM/13/104
B.Sc (H) MEDICAL BIOTECH
DECLARATION
I hereby declare that the term paper entitled
"CHROMOSOMAL ABBERATIONS AND DOWN SYNDROME" submitted to AMITY
INSTITUTE OF BIOTECHNOLOGY, is a record of an original work done by me under the
guidance of Dr. SANJEEV KUMAR (Sr.) and this project work has not performed the basis for the
award of any Degree or diploma/ associateship/fellowship and similar project if any.
SHRUTI DHAMEJA
A0504313004
ACKNOWLEDGEMENT
I take this opportunity to express my profound gratitude and deep regards to my guide Dr. Sanjeev
Kumar (Sr.) for his exemplary guidance, monitoring and constant encouragement throughout the
course of this term paper.
I am obliged to Dr. Nahid Siddique, for the valuable information provided by her. I am grateful for
her cooperation during the period of my assignment.
Lastly, I thank almighty, my parents, brother, sisters and friends for their constant encouragement
without which this assignment would not be possible.
Shruti Dhameja
CONTENTS
SR. NO. TOPIC
1 INTRODUCTION
2 CHROMOSOMAL ABBERATIONS
3 STRUCTURAL ABBERATIONS

⦁ DELETION
⦁ DUPLICATION
⦁ TRANSLOCATION
⦁ INVERSION
4 NUMERICAL ABBERATIONS
⦁ EUPLOIDY
⦁ ANEUPLOIDY
5 DOWN SYNDROME
⦁ DEFINITION
⦁ DIAGNOSIS
⦁ SYMPTOMS
Introduction
Chromosomal aberrations

Trisomy 21 Hypothesis
Trisomy 21 also called Down syndrome, is an abnormality at a chromosome level and is believed to
be the most prevalent genetic impairment (Bukato & Daehler, 2012, p. 89). Compared to other
children with related mental development, a child with Down syndrome has academic impairment
such as language and memory, their physical development is considered slow, and they possess
unique traits. Some of these traits consist of almond shaped eyes, a flattened facial feature, broad
hands, and an unusual crease in the center of the palm. Physical development is considered slow
which results in being short in stature, height, and poor muscle tone. This syndrome causes poor
vision including cataracts and other eye problem, immune system deficiencies. Forty percent ...
The preposition of cells seems to exhibit the severity of trisomy. The age of the parents seems to
increase the contributing aspect to Down syndrome. Women thirty–five and older have given birth
to sixteen percent of babies, which over half were born with Down syndrome. Expects have
conducted different experiments to try and explain this, the first being the "older egg" hypothesis.
With age the ova either changes due to time or for the reason of increased exposure to potentially
hazardous biological and environmental conditions (p89). During ovulation the egg cells being
released in later childbearing aged women are more susceptible to chromosomal errors as most are
undergoing the last stages of meiosis. Other expects have a hypothesis of the "relaxed selection",
which shows older mothers, contrary to younger mothers, are less likely to unconsciously terminate
the fetus with trisomy 21 chromosomes. Another view is egg cells with the extra chromosomes are
less likely to be selected but as the women ages more egg cells with extra chromosomes are present
and there are more to choose from. The age of the father can also be a

Myeloproliferative Neoplasms
Myeloproliferative neoplasms (MPNs) are a clonal disease of myeloid stem cells that are
characterized by myeloid cell proliferation, bone marrow (BM) fibrosis, and symptoms associated
with the accompanying peripheral blood cell abnormalities. The World Health Organization (WHO)
provides diagnostic criteria for the following MPN subtypes: chronic myelogenous leukemia; BCR–
ABL1–positive; polycythemia vera (PV); essential thrombocythemia (ET); primary myelofibrosis
(PMF); chronic neutrophilic leukemia; chronic eosinophilic leukemia, not otherwise specified;
mastocytosis; and MPN–unclassifiable (MPN–U).1 Common molecular events in MPNs are the
V617F mutation in the JAK2 gene, mutations of exon 10 of the MPL gene (mainly involving codon
W515), and ... Show more content on Helpwriting.net ...
At least 20 metaphases were analyzed whenever possible. Clonal abnormalities were defined as two
or more cells with the same chromosomal gain or structural rearrangement or at least three cells with
the same chromosome deletion. Karyotypes were recorded according to the International System for
Human Cytogenetic Nomenclature (ISCN) 2013.14
In addition, fluorescence in situ hybridization (FISH) was performed in most cases (n = 158). The
following commercial FISH probes were used in subset of patients: a BCR/ABL dual–color, dual–
translocation probe (n = 158); the 13q14 SpectrumOrange probe (n = 66); the LSI D20S108 (20q12)
probe (n = 77); the LSI EGR1 (5q31) probe (n = 27); the LSI D7S522 (7q31) probe (n = 18); the
CEP 8 probe (n = 23); and the LSI 1p32/1q25 probe (n = 21) (all from Abbott Molecular, Des
Plaines, IL). Slides were stained with FISH probes and counterstained with DAPI, and the
fluorescence signals were analyzed by fluorescent microscopy (Zeiss, Göttingen, Germany). FISH
results were recorded according to the ISCN

Trisomy 13: A Case Study
In people with Trisomy 13, many deformities occur as a result of their genetic abnormality. One
result of this disorder is a distinctive change in the subject's appearance. Some external deformities
include: a cleft lip or palate, clenched hands (with outer fingers on top of inner fingers), close–set
eyes (or possibly one fused eye), decreased muscle tone, polydactyly (extra fingers or toes)(see
figure 2), single palm crease (see figure 3), coloboma (having a hole, split, or cleft in the iris of the
eye)(see figure 4), low–set ears, scalp defects such as missing skin, limb abnormalities, small eyes, a
small head, a small lower jaw, and an undescended testicle in males (Haldeman–Englert, C., &
A.D.A.M., 2016), or a prominent heel (Clark, Heather

Drosophila Melanogaster Research Paper
Upon analyzing the mutant Drosophila melanogaster and comparing it to its wild type counterpart, it
was determined that the allele of the mutant gene phenotypically alters eye color. There are no other
physical differences concerning bristles, wing shape, body color, wing venation, nor eye shape. Wild
type male and female D. melanogaster have vibrant orange eyes with the addition of a black,
pseudo–pupil in the center (Figure 1. C and D). Their eye color appears to darken with age. Male
and female wild type eye color does not vary significantly. Mutant male and female D. melanogaster
have a significantly darker eye color than the wild type flies. The color resembles a reddish shade
that resembles wine or oxidized blood (Figure 1. A and B). ... Show more content on Helpwriting.net
...
The first possible gene is ras1 or raspberry gene. This gene is located on the X chromosome and at
9E1–9E2 on the cytogenetic map. The location on the recombination map is unknown. The ras1
gene is a possible choice due to the dark red and orange color combination that it expresses. (Nash
et al. 1994) Another gene is the Pur1 or the purplish ruby gene. This gene is located at 3–39.5 on the
recombination map. The Pur1 gene could be responsible for the mutant's eye coloration due to the
red and brown pigments that are present. (Aparisi and Najera 1990) The pr1 or purple gene is
another possible explanation for the mutant's eye color. This gene is located at 38B3–38B3 on the
cytogenetic map. It's location on the recombination map is 2–54.5. The purple gene has a high
probability of being responsible for the mutant's eye color due to the light reddish color combined
with a touch of orange and the similar texture that it possesses. (Kim et al. 1996) Another possible
gene is ry1 or rosy. This gene is located on the 3R chromosome. Its location on the recombination
map is 3–52.0. The rosy gene can be located at 87D9–87D9 on the cytogenetic map. Rosy gene is
another possibility because it possess a red shade with more orange and brown pigments that could
compensate for the lighting when viewing the mutant specimen through the stereoscope. (Zhou and
Riddiford

The Epidemiology Of Leukemia And Advances
The Epidemiology of Leukemia and Advances in Early Detection to Apply Chemotherapy
I. Introduction
II. Clinical Characteristics of Leukemia
a. Overview the physiological stages of leukemia
I. Acute lymphocytic leukemia
II. Acute myelogenous leukemia
III. Chronic lymphocytic leukemia
IV. Chronic myelogenous leukemia
b. Places of origin of leukemia
I. Bone marrow
II. Red blood cells
III. Lymphatic tissue
c. Early signs and the symptoms
III. Tests are in use to diagnose and identify the explicit types of leukemia
a. Diagnostic tests for leukemia
I. Blood test
II. Bone marrow test (aspiration and biopsy)
III. Cytogenetic analysis
IV. Immunophenotyping
V. Polymerase chain reaction (PCR)
b. Additional diagnostic test for chronic leukemia
I. Immunoglobulin test
II. Fluorescence in situ hybridization (FISH)
III. G–banding karyotyping
IV. Chemotherapy is in use to slow or stop the growth of cancer cells in the body.
a. Methods of applying chemotherapy
I. Orally taken pills
II. Injected into the veins
III. Direct placement in the fluid surrounding the brain and spinal cord
b. Diagnosis using chemotherapy
I. Chemotherapy for acute leukemia
II. Chemotherapy for chronic leukemia
c. Chemotherapy side effects
V. Conclusion

Leukemia does not show obvious symptoms early on, however it shows certain unusually symptoms
which requires further diagnoses. The evaluation of the leukemia diagnostic tests takes place in
laboratory to determine the treatment plan for the patient and to

Irish Ring Research Paper
If an archaeologist were to go into my room they would discover a silver ring that sits on top of a
bookshelf. The ring is small, about a size six. Halfway through, the band is interrupted by two hands
with cuffs holding a heart with a crown on it. The design is very detailed. The cuffs aren't perfectly
square, they're a little wider on the side distal to the hands. Five ridges about one centimeter apart
are on the cuffs. A protruding ring separates the cuffs and hands. The first four fingers hold the
bottom of the heart while the thumb holds the top of the heart. Each finger ends in a small fingernail
marked by a half circle. A lot of detail is used to differentiate each finger and fingernail. At its
widest part, the heart is about one centimeter ... Show more content on Helpwriting.net ...
Based on the archaeologist's observations, it can be assumed that the ring was worn often but they
wouldn't be able to confirm that I wear this ring everyday or that it is actually a special type of ring
called a Claddagh ring. Nor would they be able to determine just how important this object is to me.
One of the reasons that this ring is so important to me is because it connects me to my Irish heritage.
Claddagh rings are a type of traditional Irish ring. I am fourth generation Irish and very in touch
with my heritage. Practicing tradition is very important to me and this ring itself has so much
meaning in it. The hands represent friendship, the heart represent love and the crown represents
loyalty. Depending on how one wears the ring their relationship status is represented. By wearing
the ring on your left hand with the bottom of the heart facing your palm you are saying that you are
married, whereas if you wear it on the same hand but with the bottom of the heart facing your
fingertips you're no longer saying you are married but engaged. You are representing that you are in
a relationship if you wear it on your right hand with the bottom of the heart facing your palm but if
the bottom of the heart is facing your fingertips that means you're

Pathophysiology Research Paper
1. Define Pathophysiology: Pathophysiology may be defined as the study of function of diseased
organs with application to diagnostic procedures and patient care. Pathophysiology involves the
study of functional changes in the body that result from disease processes. Pathophysiology includes
some aspects of pathology which refers to the laboratory study of cell and tissue changes associated
with disease.
2. Define Disease: Disease may be defined as an abnormal state in which the healthy anatomy
(structure) and physiology (function) of the body is not functioning normally. Moreover it can be
defined as a disruption in homeostasis–unhealthy state of body part, system, or body as a whole
where there is anatomical distortion or physiological dysfunction. ... Show more content on
Helpwriting.net ...
ALL occurs when the cells of the bone marrow develop errors in its DNA causing it become
abnormal. This abnormality causes bone marrow cells to continue growing and dividing past when a
normal, healthy cells would. When this occurs the bone marrow produces immature cells that grow
into leukemic white blood cells called lymphoblast's which are unable to function properly and lead
to healthy cells becoming crowded and dying off. According to the Mayo Clinic childhood ALL is
one of the most common types of cancer seen affecting children (around two thirds), especially
those who have experienced previous cancer treatment, have a genetic disorder (i.e. down
syndrome), or have a sibling will ALL (MayoClinic, 2015). Factors such as age, lab results, and
response to chemotherapy treatment affect the prognosis and survival rate of those with ALL. The
younger an individual with All is the greater likelihood for recovery with proper treatment. Lab
results showing lower numbers of white blood cells have higher chances of likelihood for recovery.
Response to treatments such as chemotherapy also influence the likelihood for recovery; Depending
on the individual the prognosis is better for those who respond well to treatment i.e. have no
evidence of leukemia four to five weeks of treatment than those that don't (Pietrangelo,

Turner Syndrome
Introduction Named after Henry Turner, who in 1938 was one the first doctors to report his
discovery in the medical literature on this disorder, Turner Syndrome (TS) also known as monosomy
X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting
in 45X chromosomes. This disease affects only girls and women. It is one of the most common
chromosomal disorder and likely the most common genetic disorder of females (National
Organization for Rare Disorders 2012). Individuals are usually diagnosed before birth, shortly after
birth or during early childhood. It is important to diagnosis Turner Syndrome as early as possible.
Genetics and Genotype The normal human body body is comprised of 23 pairs ... Show more
content on Helpwriting.net ...
TS is not directly "treated" by a doctor, but the individual health concerns that arise for each girl or
woman with TS should be monitored and treated by the appropriate specialist (Turner Syndrome
Society of the U.S)." Females with TS have a normal life expectancy but it also depends on the
severity of their case and if they are receiving the medical treatment that they need to live a healthy
life. For example, girls who have heart problems due to TS must see a cardiologist. Turner
Syndrome contributes to only females because we have two X chromosomes and this disorder is the
defect of one X chromosome. There is no cure for Turner Syndrome, but therapies have been
developed that can improve physical treatment. The primary therapies for affected individuals are
growth hormone therapy and estrogen therapy. Most females with Turner syndrome require sex
hormone replacement therapy in order to undergo normal development associated with puberty and
to begin their menstrual

How Individuals with Down Syndrome can Prosper in Life Essay
How Individuals with Down Syndrome can Prosper in Life
Roger is a handsome blonde, blue–eyed boy but one can tell he is different from most other children.
His physical features are somewhat strange. Roger's face is broader and his nasal bridge flatter than
usual. And his eyes, they appear to slant upward and have folds at the inner corners. His mouth is
small and the roof of his mouth is very narrow. Not to mention his small ears which fold over a bit at
the top. Touching his hands they are tiny, his fingers shorter and his fifth finger seems to curve
slightly inward. These are all physical signs of a child with a disorder called Down syndrome, a
chromosome disorder. While there is no actual cure for Down syndrome I believe ... Show more
There are three main types of chromosome abnormalities that can occur with Down syndrome,
which are trisomy, translocation, and mosaicism.
Trisomy occurs when a child has an extra 21 chromosome known as trisomy 21. This means that a
child with Down syndrome has forty–seven chromosomes in each cell, instead of the normal
number of forty–six chromosomes. This form of chromosome error, trisomy 21, is found in about
ninety five percent of persons with Down syndrome. In three–four percent of people with Down
syndrome, the second type, translocation occurs. Translocation happens when an extra 21
chromosome is attached or translocated on to another chromosome. With this type in one–third of
the cases a parent is the carrier of translocation and that is why it is important to examine the
parents' chromosomes. The last chromosome abnormality is mosaicism. This type results from an
error in cell division soon after conception and with it some cells have forty–seven chromosomes
while others have forty–six chromosomes. However, only one percent of individuals has this type of
chromosome abnormality (Moss).
Although having a child with Down syndrome may be difficult at times, education is important for a
child with Down syndrome to be able to prosper in life. Although the vast majority of children with
Down syndrome function in the mild to moderate range of mental retardation they have many
abilities and if given the chance there is no limit to

Turner Syndrome : A Chromosomal Disorder
Turner Syndrome
Shinji Lin
December 15, 2015 Period 5
Turner syndrome is a chromosomal disorder that affects development in females. This condition is
caused by a missing or incomplete X chromosome. In 1938, Henry Turner, an American
endocrinologist, described seven women with short stature, lack of sexual development, neck
webbing (extra skin on neck), low hairline, and cubitus valgus (arms that turn out at the elbow).
Years earlier, Otto Ullrich, a German geneticist, independently described an 8–year–old girl with
short stature, swelling of the hands and feet, neck webbing, and several other features now
associated with Turner syndrome. In the 1940s, endocrine and pathology studies confirmed that the
sexual immaturity seen in these patients was due to ovarian failure. In 1954, Paul Polani and his
colleagues provided the first link between Turner syndrome and sex chromosome abnormality when
they reported three patients with this condition who were sex chromatin negative. With the advances
in chromosomal analysis, it was revealed that Turner syndrome was associated with the presence of
a single X chromosome. Other names used to refer to this disorder include TS, monosomy X, and
Ullrich–Turner syndrome. Normally, a female inherits one X chromosome from each of her parents.
However, girls with Turner syndrome do not have two complete X chromosomes. Approximately
half of individuals with Turner syndrome have monosomy X, which means each body cell has only
one copy of the

Trismony 18 or Edwards Syndrome
Introduction Trisomy 18, or Edwards Syndrome as it is more commonly known, is a genetic
disorder in which there is a problem with cell division called meiotic disjunction. This disease is
commonly associated with the well known Downs Syndrome which is also known as Trisomy 21. A
disease with an unnatural number of chromosomes are is called a aneuploidy. Edwards Syndrome
occurs when a child is born with an extra #18 chromosome. This occurs in about 1 in 2500
pregnancies and 1 in 6000 births. There is a high mortality rate for Edwards Syndrome, half of all
children who are carried to term will be stillborn. With the survivors less than 10% will live to be a
year old, boys also having a higher mortality rate. (Trisomy 18 Foundation 2013). In this paper I
will be addressing key components to Trisomy 18 and looking more closely at a few cases of "long
living" survivors. Specifically history, symptoms, diagnosis, screening and treatment will be
examined.
History
Trisomy 18 and 13 began to appear in literature in the early 1960's. During this time both of these
diseases were considered fatal. A majority of the documented information obtained on these
chromosome disorders was gathered from case studies. Even to the current day, these are very
deadly syndromes that often kill within the first year of life but due to medical advances can now
have life sustained (Nelson 2012). In a study from 1968 some of the clinical features of Edwards
syndrome include an elongation of the

Acute Myeloid Leukemia (AML)
Acute Myeloid Leukemia is also known to be called AML and is the most common form of all acute
leukemias out there. AML is generally an older person's disease and it is uncommon in people under
the age of 45 while the average age for a person with this disease is 68 years of age. AML is much
more common in men than women and the risk of both male and female being diagnosed with acute
myeloid leukemia is less than half of one percent. AML is rare in the diagnosis and it is estimated
for the year 2018 for new patients to be diagnosed with AML is about 19,520 this is mostly in
adults. The deaths that are estimated for the year 2018 is 10,670 with AML and almost all will be
adults. It is said in iMedPub Journal that adults do not participate ... Show more content on
Helpwriting.net ...
Rudolf Virchow, a German pathologist in 1856, was the first to use the term leukemia which is taken
from the Greek word meaning "white blood" he first described the abnormal excess of white blood
cells in patients with the clinical syndrome. Myeloid was first used by Newmann in 1869, he was
the first to recognize that white blood cells were made in the bone marrow and not by the spleen as
everyone had believed originally. 1889, Wilhelm Ebstein, used the term "acute leukemia" to show
the difference between the quick progressive and fatal leukemias to those of chronic leukemias. In
1900, Naegeli was the first person to characterize the myeloblast which is the malignant cell in the
AML. He was able to divide the leukemias into two separate categories lymphocytic and myeloid.
2008 was a big year as AML was the first cancer genome which is a haploid set of chromosomes in
the gamete or in a multicellular organism to be sequenced fully to extract DNA from leukemic cells
where they were able to compare the affected cells with normal cells. They found that leukemic cells
had acquired mutation in several of genes that had not previously been associated with acute
myeloid

The Earliest Depictions Of A Person With Down Syndrome
The earliest depiction of a person with Down syndrome was dated in 1515 in a Flemish painting.
Doctor John Langdon Down described Down syndrome as a disorder in 1866, however he
misunderstood on how the syndrome first came about. The cause to Down syndrome was discovered
recently in 1959 as being the common cause of cognitive impairments. All individuals who contain
down syndrome show symptoms of mild to moderate learning disability, distinctive facial features,
and hypotonic in early infancy. Down syndrome often associates with heart defects, leukaemia and
early Alzheimer's disease, the degree of being affected by these characteristics can differ from mild
to serve. Down syndrome can occur between 1 in 1500 and 1 400 babies born in ... Show more
This genetic material is found in the centre structure (known as the nucleus) of a cell. The human
body is made up of millions of cells, in each cell there are 46 chromosomes – half from the mother
and half from the father. out of the 46 chromosomes there are 23 pairs, one of these pairs – pair
number 23 – are the sex chromosomes which determines the infants sex – XX female, XY male. The
other 22 pairs are known as autosomes. These pairs are known as homologous chromosomes since
they contain genes for the characteristics which are the same size and length. Gametes – sex cells –
only contain one chromosome from each homologous pair, hence contain the haploid number
(N).The allele – different versions of the same gene – pair for each characteristics is called the
genotype, whereas the physical expression of the allele is the phenotype. Some alleles are dominate
and some are recessive, the dominate gene always gets past on. A genetic disorder is a disease or
condition caused by an absent or detective gene or a chromosomal aberration such as Down
syndrome. – Reference
Down syndrome (trisomy 21) is a chromosomal abnormality – change in the number of
chromosomes, which lead to physical or mental abnormalities – caused by an error in cell division
that is a result of having an extra 21st chromosome. 95% of the time the trisomy is mainly due to an
abnormality of the egg of a mother, during fertilisation the 23 chromosomes from

Correlation And Gonadal Abnormalities And Chromosomal...
Even if the percentage for hormonal and gonadal abnormalities is more compared to chromosomal
abnormalities in SA, cytogenetic investigation is a must. The percentage of total CA (16%) in SA of
the present study will hold good with previous studies which vary from 5 – 33.3% and pure
numerical abnormalities (45,X; 47,XXX) could not be observed (table 3). The CA observed was
only X mosaicism in two of the studies (gupta, Butnarui) as compared to present study (16/43%).
The percentage for X mosaicism was almost equal in a study done by Wong (14/45.1%) and the
present study. The XY female and its variants were not observed in other studies except in two
(Opitz, 1/20%; Kalavathi, 1/11.1%) which was less compared to present study (8/22%). The
structural abnormality was at a higher range in the study done by Kalavathi (6/66.7%) followed by
Safai (3/60%).
When the studies on amenorrhea are done in a particular region or racial group, the percentage of
CA in SA is always less compared to CA in PA (Cleide 1984). The CA in SA (16%) was less in
present study when compared to CA in PA (27.3%) (Leelavathy) published earlier. The percentage
for X mosaicism (43%) and structural abnormality (35%) was observed to be more in SA than in
PA.
Table 3: Literature review of karyotype Total cases Normal karyotype Total CA Numerical X mos
XY female & variants Structural & variants
Gupta 1976 11 9/81.8 2/18.2 – 2/100 – –
Opitz 1983 15 10/66.7 5/33.3 1/20 1/20 1/20 2/40
Menon 1984 50 45/90 5/10

Research Paper On Down Syndrome
Down Syndrome
They used to be called "Mongoloids," an ethnic insult coined by John Langdon Down, an English
physician during the nineteenth century. But now they are known as people, individuals with a
condition known as Down syndrome. (3). It wasn't until the 1960s that Jerome Lejeune and Patricia
Jacobs discovered the cause of Down syndrome (also called trisomy 21). But with technological
advancements within the scientific community, more and more information has been gathered about
the condition that affects about one in every one thousand children born around the world. (4).
Research shows that Down syndrome is a genetic condition caused by certain chromosomal
abnormalities. Chromosomes within cells are composed of ... Show more content on Helpwriting.net
...
This is where the name trisomy 21 originates. (5).
The extra chromosome in trisomy 21 results in overexpression of the genes. Although
overexpression is not noticeable in many genes, the genes that are involved in Down syndrome seem
to be quite different. In fact, not even all of the genes in the 21st chromosome need to be tripled to
result in Down syndrome. There are approximately 250 genes in the 21st chromosome, and only 20
to 50 genes need to be involved in the nondisjunction to cause the effects of trisomy 21. The small
area within the cell where genes need to be to cause Down syndrome is called the Critical Region.
(3).
There are several genes that researchers believe might be involved in causing Down syndrome.
Overexpression in genes such as CAF1A, Cystathione Beta Synthase (CBS), and GART might be
harmful to DNA synthesis and repair. COL6A1 overexpression may cause heart defects, and CRYA1
overexpression might aid in the development of cataracts. Overexpression of ETS2 may be the
cause of leukemia and skeletal abnormalities, while the DRYK overexpression could possibly result
in mental retardation. Premature aging and decreased function of the immune system may be caused
by the overexpression of Superoxide Dismutase (SOD1). It is important to note, however, that
despite many hypotheses and speculations, no gene has been conclusively linked to

Congenital Condition Of Congenital Heart Defects
INTRODUCTION Congenital Heart Defects (CHDs) include all structural anomalies of the heart
and the intrathoracic great vessels resulting from the errors in morphogenesis, during development.
The incidence of CHDs among live births is estimated to be 3.7 to 7.7 per 1000 (Ferencz et al.
1985). CHDs are etiologically heterogenous and it could be due to genetic (single gene defects,
chromosomal abnormality) and or environmental (multifactorial, teratogens) or unknown factors
(Michels and Ricardi 1990). From literature, it is seen, that 6 percent of CHDs are due to
chromosomal abnormality (Greenwood et al. 1975). Conversely, the reported incidence of CHDs
among individuals with chromosomal abnormality is around 30 percent. Objectives: In this paper, it
is aimed to find out the occurrence of the chromosomal abnormality and its association to CHDs in
consecutively referred patients to Division of Human Genetics, St John's Medical College,
Bangalore. MATERIAL AND METHODS A total of 65 patients with CHDs were referred for
karyotyping and counseling, during a period of 5 years. There were 33 male and 32 female patients
and their age ranged from neonate to 16 years. Patients' details were recorded in a proforma.
Chromosomal preparations were done from the modified leucocyte microculture method (Arakaki
and Sparkes 1963) followed by Giemsa–Trypsin–Giemsa banding technique (Seabright 1971),
automated photography and karyotyping.

Three Different Types Of Down Syndrome
Down syndrome is a common disorder that affects many people across the globe. In fact, Down
syndrome is the most common genetic birth defect. Down syndrome affects over 400,000
individuals in the United States alone. Down syndrome always affects the 21st chromosome in a
certain way. The normal amount of chromosomes that a person has is 46 chromosomes, but most
commonly, a patient with Down syndrome has 47 chromosomes. Down syndrome is a disorder that
affects the 21st chromosome, causing intellectual impairment and physical abnormalities. There are
three different types of Down syndrome: Trisomy 21, translocation, and mosaicism. About 90–95%
percent of people with Down syndrome have Trisomy 21. Trisomy 21 is when an extra copy of the
21st chromosome is formed. Translocation is when a part of the 21st chromosome is broken off and
attaches itself to another chromosome. Mosaicism is when only some of the cells in the body are
affected by Trisomy 21. Down syndrome can cause delayed development, upturned eyes, a learning
disability, s short stature, a speech delay, a simian crease, and a displacement of the tongue. Some
ways to test if an individual has Down syndrome is when a child is in the womb and an
amniocentesis, chronic villus sampling, or a cordocentesis are performed. An amniocentesis is when
some of the amniotic fluid id sampled. A chronic villus sampling is when a sample of the placenta is
taken. A cordocentesis is when cells are extracted from the ... Show more content on Helpwriting.net
...
N.p., n.d. Web. 16 Mar. 2016.
"National Down Syndrome Society – The National Advocate for People with Down Syndrome
Since 1979." National Down Syndrome Society – The National Advocate for People with Down
Syndrome Since 1979. N.p., n.d. Web. 16 Mar. 2016.
"NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development."
NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development.
N.p., n.d. Web. 16 Mar.

Down Syndrome : An Mysterious Genetic Condition
Brief History: Until the mid–twentieth century, Down Syndrome was considered a mysterious
genetic condition that not many scientists or common people could understand or accurately
describe. More specifically, members of the society realized that people with Down Syndrome were
different – but they could not distinguish or diagnosticate the characteristics or the causes of the
condition. Although that is true, scientists and doctors like Jérôme Lejeune, Jean–Étienne
Dominique Esquirol, and Édouard Séguin had investigated and recognized certain indicative
attributes of those with Down Syndrome. However, none of them composed a fully descriptive
study that corresponded with the lives of a majority of Down Syndrome patients. In due time, (1866)
British doctor John Langdon Down presented a comprehensive, widely acclaimed, and unrefuted
portraiture of what Down Syndrome truly resembles.
Definition:
Down syndrome is characterized as a chronic genetic chromosomal disorder which alters one's
cognitive growth, intellectual development, and physical characteristics. This extremely widespread
condition is most prominently existent in human beings whose genetic makeup is composed of an
additional copy of chromosome 21. Additionally, these human beings are known for acquiring 47
chromosomes rather than the conventional 46 chromosomes. This chromosomal abnormality is
extremely common, yet highly spontaneous. To illustrate, the prevalence of Down Syndrome is
exhibited as around

The Genetic Disorder Or Autoimmune Disease? How Was It...
A–T Questions
A. Who first discovered the genetic disorder or autoimmune disease? How was it discovered?
Answer: In 1866, Doctor John Langdon Down. He first described Down syndrome as a disorder, but
he misunderstood how Down syndrome arises. The cause of Down syndrome was rather recently
discovered in 1959. Down syndrome is a genetic disorder and most common cause of cognitive
impairments. B. Is the disease state recessive or dominant? Explain your answer.
Answer: The disease isn't a disease, it is considered a disorder. This disorder can't be a disease
because it is a disorder with having an extra chromosome. It is a disorder because it is caused by the
chromosomal abnormality called Trisomy 21.
C. Difference between ... Show more content on Helpwriting.net ...
Trisomy 21 is a disorder that is also considered a chromosomal abnormality because it has an extra
chromosome added. This causes the abnormality to have Down syndrome. Like in most cases of
Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal
abnormality occurs as a random event during the formation of reproduction cells in a parent. The
abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells.
E. is it an autosome or sex linked? Explain your answer.
Answer: out of 46 chromosomes, 44 are autosomal. The remaining 2 chromosomes are sex
chromosomes. Chromosomal disorder Down syndrome/ trisomy 21: having an extra chromosome
for the 21st pair causes Down syndrome. This here would be sex linked because your sex
chromosomes are the ones who determine if you are to have the disorder. Also because your parents
are the ones who are passing their chromosomes and those sex chromosomes are what makes you. F.
what specifically causes the disorder or disease? Describe what happens to which gene. Answer: The
most common form of Down syndrome is known as Trisomy 21, a condition where individuals have
47 chromosomes in each cell instead of 46. This is caused by an error in cell division called
nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at
conception. To the genes when the cell division occurs is when the extra chromosome goes to find a
cell and attaches

Turner Syndrome Case Study
INTRODUCTION
Turner syndrome is a common chromosomal abnormality, occurring in approximately 1 in 2000
live–born female infants. it results when an X chromosome is missing or partially missing. Turner
syndrome can cause medico–developmental problems, including short stature, failure to start
puberty, infertility, heart defects, thyroid problems, certain learning disabilities and social
adjustment problems. About 10–30% of cases develop hypothyroidism. This is often associated with
thyroid enlargement.
AIM OF WORK role of I.V fluids in routine management of hypothyroidism
METHODS
meta–analysis, case control studies and randomized control trials were revised of levothyroxine
sodium and liothyronine given to patients with hypothyroidism were identified on systemic searches
based on 3 electronic databases including cochrane and pubmed databases
RESULTS
MONOTHERAPY ... Show more content on Helpwriting.net ...
combined levothyroxine and liothyronine was not evidence based . the available studies are not
enough to draw a conclusion about use of i.v fluids in cases of hypotyroidism for any purpose

Approximately three to four percent of babies born every...
Approximately three to four percent of babies born every year are born with some kind of genetic
disorder. A genetic disorder is described as an illness caused by an error in one's genome, and is
usually hereditary. To understand how these errors occur, one must first understand the basic
concept of genes. Genes are the basic units of heredity and are made up of pieces of DNA that
instruct the cell how to make specific proteins. Humans are estimated to have about 20,000 to
30,000 genes in their genome. Chromosomes contain these genes and DNA. Humans have 23 pairs
of chromosomes or a total of 46 chromosomes. One pair of these chromosomes determines the sex
of a person while the other 22 are autosomal, meaning that they determine the rest of ... Show more
This event is called nondisjunction. Down Syndrome is the most common example of a trisomy
chromosomal abnormality among humans. An individual who suffers from Down Syndrome, also
known as Trisomy 21 would have three copies of chromosome 21 instead of the usual two, resulting
in a
total of 47 chromosomes. Those who suffer from Down Syndrome have intellectual disability and
are usually marked by short stature, short, stocky arms and legs, flattened facial features, slanted
eyes, and other symptoms that range in severity depending on the person. An example of a
monosomy chromosomal abnormality would be Turner Syndrome. Turner Syndrome only occurs in
women and is caused by monosomy X, which is an absence of that entire sex chromosome, leaving
only 45 chromosomes. Women affected by Turner Syndrome usually have normal intelligence but
are characterized by their short stature, loss of ovarian function, and sometimes a webbed neck or
swelling of hands and feet. The second type of chromosomal abnormalities is structural
abnormalities. These include abnormalities due to deletions, duplications, translocations, inversions,
or rings. Deletions are when a part of a chromosome is either missing or deleted. An example of
disorder caused by deletion is Wolf–Hirschhorn Syndrome which occurs due to partial deletion of
the short arm of chromosome 4. Duplications occur when a portion of a

A Short Note On 13, And Patau Syndrome
Trisomy 13, or Patau Syndrome, is caused by the presence of three chromosome copies on
chromosome 13. An extra copy of chromosome 13 causes the majority of cases. Some cases are
caused by a Robertsonian translocation between chromosome 13 and other autosomes such as
chromosomes 15, 21, and 22. According to Bishra & Clericuzio "Trisomy 13 is the third most
common autosomal trisomy, with an incidence of 1 per 10,000" (Bishara & Clericuzio, 2008, p. 30).
It is comprised mainly of defects of the eyes, nose, lips, forebrain, holoprosencephaly, polydactyly,
and narrow hyperconvex fingernails, and skin defects of the posterior scalp. The median age of
survival is seven days, with over 90% of affected patients dying within the first year of life (Jones &
Casanelles, 2014). Common causes of death include cardiac arrest, complications of congenital
heart disease, and pneumonia. Those that survive the neonatal period have an average length of stay
in the neonatal intensive care unit (NICU) of 10 days. According to studies, almost one quarter of
patients have at least one type of surgery in the neonatal period. More than half of fetuses with
trisomy 13 spontaneously abort. Most survivors have severe intellectual disability, seizures,
developmental delay, and failure to thrive. The incidence is slightly higher in females compared to
males.
The etiology of this disorder is trisomy of chromosome 13. Although most children do not survive
longer than one year, it is one of the

College Essay On Down Syndrome
Down syndrome is a congenital disorder resulting from a chromosome defect. Down syndrome
affects people of all ages, race, and economic status. It causes an increased risk of health problems
and developmental issues. Researchers have found that centuries ago there were people who seemed
to depict the same features of those with Down syndrome today. In 1866, John Langdon Down was
the first to identify Down syndrome as a disorder. Before he described it as a disorder, those with
Down syndrome were killed, abandoned, or excluded from society. Many were also institutionalized
and received improper treatment because of the uncertainty of the disorder. In 1959, the French
physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. Instead of the
usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with
Down syndrome.
Down syndrome occurs by nondisjunction. Nondisjunction is the failure of a pair of chromosomes
to separate during egg, or sperm, formation. The embryo ends up with three copies of chromosome
21 when the defective chromosome's egg joins with a normal sperm ... Show more content on
Helpwriting.net ...
Although there is no direct treatment for Down syndrome, there are treatments for the complications
that go along with the disorder. According to the Mayo Clinic, persons born with Down syndrome
have a higher risk of heart defects, leukemia, infectious diseases, obesity, and other related
complications (Mayo Clinic Staff). There are available treatments for these conditions such as
surgery, chemotherapy and radiation, and regulated diets. The defect in the chromosomes in a person
with Down syndrome causes their immune systems to be quite weak. These weak immune systems
cause them to be much more susceptible to infectious diseases such as strep throat or chickenpox,
which can typically be treated with

Myelodysplastic Syndrome
People who have Myelodysplastic Syndrome may not experience symptoms at the beginning of the
disease. However, there are three main signs that can develop and alert healthcare providers that
something is wrong. One of these is a low red blood cell count, or Anemia. Most patients that have
myelodysplastic syndromes exhibit this indicator when first diagnosed. A normal red blood count
can vary between 4.0 and 6.1 million red blood cells per microliter of blood in the body, depending
on the age and sex of the patient. A red blood cell count lower than normal is characteristic of
Anemia (Cafasso, Jacquelyn, and Gotter). Not only is Anemia shown by constantly low hematocrit,
but it can also be characterized by constantly low hemoglobin. A normal hemoglobin count is
between 12.0 and 15.5 grams per deciliter of blood for females, and 13.5 to 17.5 grams per deciliter
of blood for males. Levels lower than these show a low hemoglobin level (Mayo Clinic,
Hemoglobin Test). Hemoglobin is the protein in blood that carries oxygen to the different tissues in
the body. ... Show more content on Helpwriting.net ...
A person with a normal platelet count has between 150,000 to 450,000 per each microliter of blood
in the body. With Thrombocytopenia, patients have platelet counts that are less than 150,000 per
microliter of blood. Platelets help to promote blood clotting. When a person receives a cut, or injures
themselves, platelets come to the site of injury and bind to damaged vessel, thus causing a blood clot
and helping to stop the bleeding that accompanies the injury (Williams). However, with a reduced
platelet count, this function can be impaired. Patients can easily bruise or bleed due to even a slight
bump, as well as experience nosebleeds. Bleeding gums are another symptom of Thrombocytopenia
(MDS Foundation). Based on symptoms, doctors might decide to test a patient for Myelodysplastic

Acute Leukemia Essay
Acute–myeloid–leukemia (AML) is a myeloid neoplasm which is aggressive and arrests maturation
of bone marrow leading to an accumulation of immature cells of myeloblasts in bone marrow and
blood. AML forms a heterogeneous and complex disease associated strongly with epigenetic and
genetic changes in hematopoietic ancestors. These lead to disruptions of many signaling pathways
resulting in survival proliferation, and growth of the leukemic cells.
Normal HSC's (hematopoietic–stem–cells) reside in niche microenvironment of red bone marrow
and their function and survival is regulated here. AML is present in extramedullary–AML in the
initial diagnosis or during a relapse. Extramedullary inﬁltrations are common in all AML patients,
including in the: ... Show more content on Helpwriting.net ...
The survival rate at 5 years is much lower in older people than in younger adults. Experts say this is
due in part to the fact that the body of a young person can better tolerate strong chemotherapy drugs.
In addition, in elderly leukemia it tends to be more resistant to current treatments. If cancer does not
relapse within 5 years of diagnosis, you are probably cured.
Analysis of the prognosis without treatment:
The prognosis of patients with acute myeloid leukemia varies substantially depending on the
patient's age and the subtype of AML. The elderly, the AML related to previous, or secondary to
myelodysplasias and myeloproliferative syndrome treatments, the degree of initial leukocytosis, the
presence of certain genetic / molecular abnormalities, as well as the slowness in obtaining complete
remission, among others, parameters constitute an unfavorable prognosis.
Thus, young patients with leukemia's standard risk receiving a family member or donor allogeneic
unrelated in first complete remission have a chance of cure of up to 65%, while an elderly patient
with leukemia post–myelodysplastic or secondary does not achieve complete remission with
induction chemotherapy, virtually no healing

Research Paper On Down Syndrome
Down Syndrome is the most common genetic disorder in the United States. It was first described in
1866 by John Langdon Down. The actual cause of Down Syndrome or Trisomy 21 was discovered
in 1959. In the United States 1 in every 800 kids will be diagnosed with
Down Syndrome. That's about 6,000 kids born with down syndrome every year. The life expectancy
of people with Down Syndrome varys. In 1910 a baby with Down Syndrome wouldn't live until 10
years old, but today someone with Down Syndrome can live to 60 and beyond.
There is no actual cure for Down Syndrome, but there is treatment that will with help a person
mentally and physically. Treatments of Down Syndrome consists of therapy and self care. Therapies
consists of speech therapy, support group, and occupational therapy. Devices that will help is glasses
to help with poor vision. Other treatments options can be surgery to fix the face and regular
checkups and screenings. Finally they can take medications to help them stay focused. ... Show
more content on Helpwriting.net ...
The main risks are hearing problems, eye problems, heart diseases, Leukemia and other cancers, and
finally mental retardation. The reason there are so many conditions that come with Down Syndrome
there is a high chance of premature death. There are three types of Down Syndrome, Trisomy
21(nondisjunction), translocation, and mosaicism. Non Disjunction means there a mistake in the
splitting of the cells of meiosis. In Translocation there are still 46 chromosomes but another 21
attaches to another chromosome, usually 14. The extra 21 is what causes Down Syndrome. Then
you have Mosaicism is the least common form of Down Syndrome. Its form is caused by some
containing usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes
contain an extra chromosome

Trisomy 18 Case Study
Trisha Jane Lawrence was born on August 1, 2010 and weighed 31 pounds and measured 15.5
inches long. She was diagnosed with trisomy 18, but she was not expected to live very long. In this
case, Trisha wasn't able to eat because her stomach and esophagus were not connected. However,
her parents stuck to God's plan and decided against surgery to reconstruct it. Remorsefully, a year
later Trisha Jane Lawrence died peacefully in her mother's arms on August 2nd, 2011. Hence,
trisomy 18 is a rare chromosomal disorder that most likely will result in death. Trisomy 18 affects
few children, has a variety of symptoms, and leaves patients with no cure. The first case reports of
trisomy 18, or edwards syndrome, was in 1960. Evidently, this is also ... Show more content on
Helpwriting.net ...
Sometimes a referral for feeding clinics if appropriate. A feeding clinic is where caregivers help
patients with a hard time eating to get nutrients whether it is through a tube or other methods. Some
others include routine immunization which is a routine of a certain vaccination, oxygen therapy
which is a treatment that provides a patient with extra oxygen, special education, genetic counseling
which is the process of helping patients understand and adapt to the genetic attributes of a disease,
and surgical procedures. Trisomy 18 has no cure and these treatments are for comfort care

The Disorder Of Down Syndrome
Have you ever wonder or questioned the disorder of down syndrome? According to many National
Down Syndrome Society within the United States, Down syndrome has occurred one out of eight
hundred births. It is the most frequent form of mental retardation and characterized by well–defined
events and distinctive features. It's a lifelong disorder caused by a genetic defeat that's none curable.
It takes people with patients and kind hearts to care for people with Down syndrome disorder.
History
In the late nineteenth century John Langdon Down, an English physician published the description
of a person with Down syndrome. In 1866 his scholarly work was published that gave him the name
"father" of Down syndrome. Where in 1959 the French ... Show more content on Helpwriting.net ...
Its termed trisomy 21 due to the fact it's not an entire extra chromosome 21 that is responsible but
rather a small segment of the long arm of this chromosome. Only two other triomies occurs with any
significant frequency: trisomy 13 (Patau's syndrome) and trisomy 18 (Edwards' syndrome). Trisomy
21 is one of the most common human chromosomal aberrations occurring in about 0.5 percent of all
conceptions and in one out of every seven hundred to eight hundred live birth.
Description
When the sperm cells from the father and the egg cells from the mother are formed, they both
undergo a reduction of their total number of chromosome from forty–six to twenty–three. This
process is called meiosis (which contain one–half of the chromosome number found in the original
cell before division) when a baby is conceived by the combination of one sperm cell with one egg
cell, the baby receives twenty–three chromosomes from each parent for a total of forty–six
chromosomes. Occasionally, an error occurs in the reduction process instead of passing on twenty–
three

History of the Patau Syndrome
Patau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a
person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an
assortment of heart and brain malformation in newborns. Children with the disease are often born
with multiple birth defects that are normally associated with T13 but not limited to it, including
small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental
deficiency and/or retardation. Approximately 1 in 10,000 newborns are born with Patau Syndrome
each year.
I choose this rare disease because not only is it unheard about but the present dilemma plaguing the
medical field on whether or not a child born with this disease should be given adequate care for
survival is shocking. Everyone deserves to be administered the best possible treatments available
regardless of what their "quality of life" is determined to be. Examining the physiological aspects
and treatments available for T13 show that there should be no standard to which children born with
the disease should be given higher priority with treatment based on severity.
Clinical Perspective
History
In 1656, Thomas Bartholin described developmental birth defects characteristic to those present in
newborns diagnosed with T13, only in that time is referred to as cytogenetic syndrome. It wasn't
until 1960 that German physician Klaus Patau discovered the underlying genetic cause by looking at
the

A Short Note On Pre Implantation Genetic Diagnosis
ERT – PRE–IMPLANTATION GENETIC DIAGNOSIS Cystic Fibrosis: Pre–implantation Genetic
Diagnosis (or PGD as it is more commonly called) is majorly used to test for 2 things; specifically
known genetic conditions, and chromosomal abnormality. Ultimately it allows only normal cells,
which are cells unaffected by the disorder it is testing for, to be selected and used for the IVF
process. PGD is popularly used as it maximizes the chance of having a healthy baby which is a big
health concern of potential future parents (Vitrus Health, 2016). STATISTICS PGD is performed
through a general procedure however there are three main ways that it can happen. This is through
Advanced Embryo selection (array CGH), Karyomapping and Fluorescent in Situ Hybridization
(FISH) (Vitrus Health, 2016). The most commonly used path is the Advanced Embryo Selection as
it is the most advanced and can screen for the most diseases (Hunter New England Local Health
District – Children, Young People & Families, 2016). Through these screening processes the general
procedure is as follows. The female takes medication to stimulate the ovaries into producing
multiple eggs. Once these eggs are made they are retrieved through a transvaginal needle and then
fertilized outside of the body by sperm using ICSI, which is Intracytoplasmic sperm injection, a
specialized form of IVF where the sperm is directly inserted into an egg (City Fertility Centre,
2013). The embryo is then developed in a specialized laboratory for

Chronic Leukemia Investigation

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