Tural Rajabov.

7th group

A chromosome
anomaly, abnormality or aberration reflects an atypical
number of chromosomes or a structural abnormality in
one or more chromosomes. A Karyotype refers to a full
set of chromosomes from an individual which can be
compared to a "normal" Karyotype for
the species via genetic testing. A chromosome anomaly
may be detected or confirmed in this manner.
Chromosome anomalies usually occur when there is an
error in cell division following meiosis or mitosis. There
are many types of chromosome anomalies. They can be
organized into two basic groups, numerical and
structural anomalies.

Euploidy - cell has a multiple of 23 chromosomes

Haploid - 1 number of each pair gametes.

Diploid - 2 copies of each pair somatic cell

Triploid 3 copies of each, 69 total

- 1 in 10.000 births, do not survive.
- egg fertilized by 2 sperm.

Tetraploid - 4 copies of each ( total 92)

very rare, lethal
Egg fertilized by 3 sperm.

Chromosome abnormalities fall into one of two

categories: numerical or structural. These are not
mutually exclusive: that is, numerical and structural
abnormality may be present at the same time.
Numerical abnormality, referred to as "aneuploidy", can
be due to whole chromosome number change (having
too many chromosomes or too few) or can be due to
altered copy number of parts of chromosomes.

Devitation from normal from the normal number of

chromosomes due to loss or gain of specific
chromosomes.
Generally caused by nondisjunction.
All autosomal monosomies are lethal.
Trisomies compatible with survival to term with
chromosomes ( 13, 18 and 21)
Trisomy 21 Down syndrome
Trisomy 18 Edwards syndrome autosomal
Trisomy 13 Patau syndrome
Kleinfelter syndrome 47 XXY
Turner syndrome 45 X
sex chromosomes

Balanced
Unbalanced
Balanced alterations result in no loss or gain of
genetic material. Those that happen in germline can
be transmitted to offspring.
Unbalanced alterations result in loss or gain of
genetic material. Those that happen in somatic cell
can cause cancer. It cannot inherited.

Reciprocal .
Robertsonian.
Reciprocal two different chromosomes exchanges
pieces of each other
Robertsonian two different chromosomes get stack
togather. (13, 14, 15,21,22 )

Reciprocal translocation of #9 and # 22 produce

Philadelphia chromosome. Alters abl oncogene it leads
to CML(chronic Myelogenous Leukhemia )

Reciprocal translocation of #8 and #14 results in

overproduction of myc oncogene , leads to Butkitts
Lymphoma.

Terminal

Interstitial

Interstitial delition
Pader Willi and Angelman syndrome.
(chromosome 15)

Terminal delition
Cri du chat syndrome.
(chromosome 6)

Pericentric.

Paracentric.

Sex chromosomal
Abnormalities.
Turner syndrome
Triple-X syndrome
(female)

Klinefelter syndrome
XYY syndrome
(male)

Autosomal chromosomal
Abnormalities
Down syndrome
Patau syndrome
Endward syndrome
Wolf- Hirschhorn s
Jacobsen syndrome
Charcot Maris Tooth .
Cri du chat syndrome.

Down syndrome is a genetic disorder that includes a

combination of birth defects, including some degree of mental
retardation, characteristic facial features and, often, heart defects,
visual and hearing impairment, and other health problems. The
severity of all of these problems varies greatly among affected
individuals.
Mosaic Down Syndrome
Mosaic Down syndrome happens when a person has a
percentage of cells that have three rather than two copies of the
21st chromosome and the remaining cells are unaffected. This
type of Down syndrome accounts for about 2%-4% of the cases of
Down syndrome. Mosaic translocation Down syndrome occurs
when a person has a percentage of translocation Down
syndrome cells and the remaining cells are unaffected.
Translocation happens when a piece of chromosome 21 becomes
attached to another chromosome, during cell division.
Translocation can be inherited by parents, but this is not always
the case. This type of Down syndrome has not yet been studied,
so we are unable to give an accurate number of occurrences.

Patau syndrome is the least common and most severe

of the viable autosomal trisomies. Median survival is
fewer than 3 days. First identified as a cytogenetic
syndrome in 1960, Patau syndrome is caused by an
extra copy of chromosome 13, a medium-length
acrocentric chromosome.
Many of the clinical features widely vary; however,
severe mental deficiency is a consistent feature in
children born with Patau syndrome.
Holoprosencephaly, polydactyly, flexion of the fingers,
rocker-bottom feet, facial clefting, neural tube defects,
and heart defects are also frequent clinical features.
Patau syndrome is generally recognized at birth by the
presence of structural birth defects and poor neurologic
performance.

Trisomy 18. Majority of Edward's syndrome falls in this

category. In a situation, where all cells of individual
contains additional chromosome 18, is known as
trisomy 18.
Symptom of Edward's Syndrome
Growth Deficiency,
Abnormal skull shape and facial features,
Clenched hands,
Rocker bottom feet,
Cardiac and renal abnormalities

Treatment of Edward's Syndrome

There is no specific and known treatment for Edward's
Syndrome. The symptoms caused by Edward's syndrome are
also manageable up to some extent.
Edward's syndrome may cause breathing and feeding
difficulties and if proper assistance is offered to these babies,
some of the babies may overcome these initial difficulties.
Some children may have heart problem and difficulty in
gaining weight.
A perfect nutritional diet may be suitable for these children.
The survival rate of infants having Edward's syndrome is
extremely low.
Almost half the babies die before birth and a large percentage
of infant's dies within one year of birth.
Most of the deaths are caused by heart abnormalities and
apnea.
There are some reported cases of children living above 10
years of age

It is a characteristic phenotype resulting from a partial

deletion of chromosomal material of the short arm
of chromosome 4 (del(4p16.3)).
Signs and symptoms
The most common characteristics include a distinct
craniofacial phenotype (microcephaly, micrognathia,
short philtrum, prominent glabella,
ocularhypertelorism, dysplastic ears and periauricular
tags), growth and mental retardation, muscle
hypotonia, seizures, and congenital heart defects. Less
common characteristics include hypospadias,
colobomata of the iris, renal anomalies, and
deafness. Antibody deficiencies are also common,
includingcommon variable immunodeficiency and IgA
deficiency. T-cell immunity is normal.

Jacobsen Syndrome, also known as 11q deletion

disorder, is a rare congenital disorder resulting from
deletion of a terminal region of chromosome 11that
includes band 11q24.1. It can cause intellectual
disabilities, a distinctive facial appearance, and a
variety of physical problems including heart defects
and a bleeding disorder. The syndrome was first
identified by Danish physician Petra Jacobsen, and is
believed to occur in approximately 1 out of every
100,000 births.

CharcotMarieTooth disease is caused by mutations

that cause defects in neuronal proteins. Nerve signals are
conducted by an axon with a myelinsheath wrapped
around it. Most mutations in CMT affect the myelin
sheath. Some affect the axon.
The most common cause of CMT (70-80% of the cases) is
the duplication of a large region in chromosome 17p12
that includes the gene PMP22. Some mutations affect the
gene MFN2, which codes for a mitochondrial protein.
Cells contain separate sets of genes in their nucleus and
in their mitochondria. In nerve cells, the mitochondria
travel down the long axons. In some forms of CMT,
mutatedMFN2 causes the mitochondria to form large
clusters, or clots, which are unable to travel down the
axon towards the synapses. This prevents the synapses
from functioning.

Symptoms
Symptoms of CMT usually begin in late childhood or
early adulthood. Some people don't experience
symptoms until their early thirties or forties. Usually,
the initial symptom is foot drop early in the course of
the disease. This can also cause claw toe, where the toes
are always curled. Wasting of muscle tissue of the
lower parts of the legs may give rise to "stork leg" or
"inverted bottle" appearance. Weakness in the hands
and forearms occurs in many people later in life as the
disease progresses.

Symptoms and progression of the disease can vary.

Breathing can be affected in some; so can hearing,
vision, as well as the neck and shoulder
muscles. Scoliosis is common. Hip sockets can be
malformed. Gastrointestinal problems can be part of
CMT, as can chewing, swallowing, and speaking
(as vocal cords atrophy). A tremor can develop as
muscles waste. Pregnancy has been known to
exacerbate CMT, as well as extreme emotional stress.
Patients with CMT must avoid periods of prolonged
immobility such as when recovering from a secondary
injury as prolonged periods of limited mobility can
drastically accelerate symptoms of CMT.

occurs when females inherit only one X chromosome--their genotype is

X0 (i.e., monosomy X). If they survive to birth, these girls have
abnormal growth patterns. They are short in stature, averaging 4 foot
7 inches as adults, and often have distinctive webbed necks (i.e., extra
folds of skin), small jaws, and high arched palates. They generally lack
prominent female secondary sexual characteristics. They have
exceptionally small, widely spaced breasts, broad shield-shaped chests,
and turned-out elbows. Their ovaries do not develop normally and
they do not ovulate. The few ocytes that they produce are destroyed
by the time they are two. They are in a sense postmenopausal from
early childhood and are sterile. However, they can become pregnant
and give birth if fertilized eggs from a donor are implanted. Women
with Turner syndrome have a higher than average incidence of thyroid
disease, vision and hearing problems, heart defects, diabetes, and
other autoimmune disorders. In a few individuals, there is slight
mental retardation. Turner syndrome is rare. Current estimates of its
frequency range from 1 in 2,000 to 1 in 5,000 female infants. If
diagnosed in early childhood, regular injections of human growth
hormones can increase their stature by a few inches. Beginning around
the normal age of puberty, estrogen replacement therapy can result in
some breast development and menstruation. These treatments allow
Turner syndrome women to appear relatively normal.

occurs in women who inherit three X chromosomes--their

genotype is XXX or more rarely XXXX or XXXXX. As adults,
these "super-females" or "metafemales", as they are sometimes
known, generally are an inch or so taller than average with
unusually long legs and slender torsos but otherwise appear
normal. They usually have normal development of sexual
characteristics and are fertile. They may have slight learning
difficulties and are usually in the low range of normal
intelligence (especially the XXXX and XXXXX individuals). They
tend to be emotionally immature for their size during
childhood. This sometimes results in teachers and other adults
labeling them as troublemakers. None of these traits prevent
them from being socially accepted as ordinary adult
women. Individuals who are genetic mosaics (XX/XXX) have
less noticeable symptoms. Triple-X syndromeis less rare than
Turner syndrome, but little is known about it. The frequency is
approximately 1 in 1,000 female infants and it occurs more
commonly when the mother is older.

males inherit one or more extra X chromosomes--their genotype is XXY

or more rarely XXXY or XY/XXY mosaic. In severe cases, they have
relatively high-pitched voices, asexual to feminine body contours as
well as breast enlargement, and comparatively little facial and body
hair. They are sterile or nearly so, and their testes andprostate
gland are small. As a result, they produce relatively small amounts
of testosterone. The feminizing effects of this hormonal imbalance can
be significantly diminished if Klinefelter syndrome boys are regularly
given testosterone from the age of puberty on. Like triple-X
females (described above), many Klinefelter syndrome men are an inch
or so above average height. They also are likely to be
overweight. They usually have learning difficulties as children,
especially with language and short-term memory. If not given extra
help in early childhood, this often leads to poor school grades and a
subsequent low self esteem. However, most men who have Klinefelter
syndrome are sufficiently ordinary in appearance and mental ability to
live in society without notice. It is not unusual for Klinefelter
syndrome adults with slight symptoms to be unaware that they have it
until they are tested for infertility. They are usually capable of normal
sexual function, including erection and ejaculation, but many, if not
most, are unable to produce sufficient amounts of sperm for
conception.

Klinefelter syndrome males with more than two X

chromosomes usually have extreme symptoms and are
often slightly retarded mentally. Men who are mosaic
(XY/XXY) generally have the least problems. There is no
evidence that Klinefelter syndrome boys and men are more
inclined to be homosexual, but they are more likely to be
less interested in sex. They have a higher than average risk
of developing osteoporosis, diabetes, and other
autoimmune disorders that are more common in
women. This may be connected to low testosterone
production. Subsequently, regular testosterone therapy is
often prescribed. The frequency of Klinefelter syndrome
has been reported to be between 1 in 500 and 1 in 1000 male
births. This makes it one of the most common chromosomal
abnormalities. Males with Down syndrome sometimes
also have Klinefelter syndrome. Both syndromes are more
likely to occur in babies of older mothers.

males inherit an extra Y chromosome--their genotype is XYY. As adults,

these "super-males" are usually tall (above 6 feet) and generally appear
and act normal. However, they produce high levels of
testosterone. During adolescence, they often are slender, have severe
facial acne, and are poorly coordinated. They are usually fertile and lead
ordinary lives as adults. Many, if not most, are unaware that they have a
chromosomal abnormality. The frequency of XYY syndrome is not certain
due to statistical differences between different studies. It may be as
common as 1 in 900 male births to as rare as 1 in 1500 or even 1 in 2,000.
Early studies of XYY syndrome done in European prisons initially led to
the erroneous conclusion that these men were genetically predisposed to
antisocial, aggressive behavior, below average intelligence, and
homosexuality. Contributing to the early view that XYY syndrome men
have serious personality disorders was the case of Richard Speck. In 1966,
he coldly murdered 8 nurses in a Chicago dormitory. At his trial, his
lawyer claimed that he was innocent due to uncontrollable urges caused
by his XYY genotype. This novel appeal was akin to claiming insanity or
severely diminished mental competence. The jury was not convinced and
found him guilty of murder. He was sentenced to life in prison where he
eventually died. In fact, Richard Speck did not have an XYY
genotype. However, some researchers suggest that the high testosterone
levels of XYY men can make them somewhat more prone to violence and
that this may cause higher rates of wife beating.