INTRODUCTION

Chromosomes are thread - like structures present within the

nucleus that carry hereditary information, within the sort of
genes which are passed from parent to offspring. Every
species features a characteristic structure and number of
chromosomes present. Due to certain irregularities at the
time of cell division, alteration in the structure or number of
chromosomes may happen even the slightest alteration can
lead to various abnormalities. Changes in one chromosome
parts, whole chromosome or chromosomal sets are known as
chromosomal aberrations.

A chromosomal disorder occurs when there is a

change in the number or structure of the chromosomes. This
change in the amount or arrangement of the genetic
information in the cells may result in problems in growth,
development and functioning of the body systems. The
chromosomal abnormalities may occur either during the
production of egg or sperm or early after the baby’s
conceptions. A spontaneous occurrence for unknown
reasons. A chromosomal disorder is classically defined as the
phenotype resulting from visible alteration in the number or
structure of the chromosomes.
REASON FOR CHROMOSOMAL DISORDER

DELETION OF CHROMOSOME -
In genetics, a deletion (also called gene deficiency) is a
mutation (a genetic aberration) in which a part of a
chromosome or a sequence of DNA replication. Any number
of nucleotides can be deleted, from a single base to an entire
piece of chromosome.

INVERSION OF CHROMOSOME -
An inversion is a chromosome rearrangement in which a
segment of a chromosome is reversed end to end. An
inversion occurs when a single chromosome undergoes
breakage and rearrangement within itself.

DUPLICATION OF CHROMOSOME -
It is defined as any duplication of a region of DNA that
contains a gene.

TRANSLOCATION OF CHROMOSOME -
In genetics, a chromosome translocation is a chromosome
abnormality caused by rearrangement of parts between non
homologous chromosomes.
 DOWN SYNDROME
Down syndrome (DS or DNS), also known as trisomy 21, is a
genetic disorder caused by the presence of all or part of a third
copy of chromosome 21. It is typically associated with physical
growth delays, characteristic facial features and mild to
moderate intellectual disability. The average IQ of a young
adult with down syndrome is 50, equivalent to the mental
ability of an 8or 9year - old child, but this can vary widely.
PHYSICAL SYMPTOMS –
Common physical signs of down syndrome include-

i) Decreased or poor muscle tone short neck, with excess

skin at the back of the neck.
ii) Flattened facial profile and nose, small head, ears and
mouth
iii) Upward slanting eyes, often with the skin fold that
comes out from the upper eyelid and covers the inner
corner of the eyes. White spots on the colored part of
the eye (called brush field spots).
iv) Wide, short hands with short fingers, a single, deep,
crease, across the palm of the hand.
v) A deep groove between the first and second toes.

ASSOCIATED CONDITIONS AND DISORDERS-

People with down syndrome are at increased risk for a range

of other health conditions, including autism spectrum
disorders, problems with hormones & glands, hearing loss,
vision problems & heart abnormalities.
 KLINFELTER SYNDROME
Klinefelter syndrome (KS) also known as 47, XXY or XXX, is the
set symptoms that result from two or more X chromosomes
in males. The primary features are sterility and small
testicles. Often symptoms may be subtle and many people do
not realize they are affected. Sometimes symptoms are more
prominent and may include weaker muscles, greater height,
poor coordination, less body hair, breast growth, and less
interest in sex. Often it is only at puberty that these
symptoms are noticed. Intelligence is usually normal;
however, reading difficulties and problems with speech are
more common. Symptoms are typically more severe if three
or more x chromosomes are present.
PHYSICAL SYMPTOMS:
After age 5 years, when compared to typically developing
boys, boys with KS may be:

i) Slightly taller
ii) Fatter around the belly
iii) Clumsier slower in developing motor skills,
coordination, speed, and muscle strength.

Puberty for boys with KS usually starts normally but because

their bodies make less testosterone than non-KS boys, their
pubertal development may be disrupted or slow. In addition
to being tall, KS boys may have

i) Smaller testis and penis

ii) Breast growth (about one-third of teens with KS have
breast growth).
iii) Less facial hair.
iv) Less body hair.
v) Reducd muscle tone.
vi) Narrower shoulder.
vii) Wider hips.
viii) Weaker bones, greater risk for bone fracture
ix) Decreased sexual interest
x) Lower energy
xi) Reduced sperm production
An adult male with KS may have these features

i) Infertility nearly all men with KS are unable to father

a biologically-related child.
ii) Without helf from a fertility speacialist small testes,
with the possibility of testis shrinking slightly after
the teen years.
iii) Lower testosterone levels, which lad to less muscle,
hair, and sexual interest and function.
iv) Breast or breast growth (called gynecomastia).

In some cass, breast growth can be permanent, and

about 10% of XXY males need bicast-reduction surgery
 Turner’s syndrome
A condition that affects only females, results when one of the
X chromosomes (sex chromosome) is missing or partially
missing. Turner syndrome can cause a variety of medical and
developmental problems, including short height, failure of
the ovaries to develop and heart defects.

Turner syndrome may be diagnosed before birth (prenatally),

during infancy or in early childhood. Occassionally, in females
with mild signs and symptoms of turner syndrome, the
diagnosis is delayed until the teen or young adult years.

Girls and women with turner syndrome need ongoing

medical care from a variety of speacialists. Regular checkups
and appropriate care can help most girls and women lead
healthy, independent lives.
PHYSICAL SYMPTOMS:
Signs and symptoms of turner syndrome may vary among
girls and women with the disorder. For some girls, the
presence of turner syndrome may not be readily apparent,
but in other girls, a number of physical features and poor
growth are apparent early signs and symptoms can be subtle,
developing slowly overtime, or significant, such as heart
defects.

Signs of turner syndrome at birth or during infancy may

include:

i) Wide or weblike neck.

ii) Low-sets ears.
iii) Broad chest with widely spaced nipples.
iv) High, narrow roof of mouth (palate).
v) Arms that turn outward at the elbows.
vi) Fingernails and toenails that are narrow and turned
upwards.
vii) Swelling of the hands and feet, especially at birth.
viii) Slightly smaller than average height at birth.
ix) Slowed growth.
x) Cardiac defects.
xi) Low hairline at the back of the head.
xii) Receding or small lower jaw.
xiii) Short fingers and foes in childhood, teens and
adulthood.

In childhood, teens and adulthood

i) Slowed growth.
ii) No growth spurts at expected times in childhood.
iii) Adult height significantly less than might be expected
for a female member of the family.
iv) Failure to begin sexual changes expected during
puberty.
v) Sexual development that stalls during teenage year.
vi) Early end to menstrual cycles not due to pregnancy.
vii) For most women with turner syndrome, inability to
conceive a child without fertility treatment.
 PATAU SYNDROME
Patau syndrome: A condition characterized by autosomal
trisomy. The presence of an additional (third) chromosome
on an otherwise diploid chromosome 13 with variable
abnormalities, most characteristic of which are microcephaly,
microphthalmia, hypertelorism, cleft lip or palate,
polydactyly, and cardiovascular, genitourinary and
neurological abnormalities. It is one of the most frequent
causes of perinatal deaths.

PHYSICAL SYMPTOMS:
Babies with trisomy 13 often have a normal birth weight, a
small head and a sloping forehead. Noses are usually large
("bulbous"), ears are low set and unusual in shape, eye
defects occur frequently, and cleft lip and palate as well as
heart defects are very common Many babies with trisomy 13
are born with small areas of missing skin on the scalp (cutis
aplasia), which resemble ulcers.

The brains in babies with trisomy 13 usually have major

structural problems and often, the brain does not divide
properly into two hemispheres, resulting in a condition called
holoprosencephaly Many babies with trisomy 13 have extra
fingers and toes (polydactyly). Some present with a sac
attached to the abdomen in the area of the umbilical cord
(omphalocele), which contains some of the abdominal
organs, as well as spina bifida. Girls may have an abnormally
shaped uterus, called a bicomuate uterus. In boys, the testes
sometimes fail to descend into the scrotum.

Life expectancy of a baby with trisomy 13:

Fifty per cent of babies born with trisomy 13 survive beyond t
jiheir first 7.5-125 days About 20% of babies born with
trisomy 13 survive the first year of life. It is difficult to predict
the life expectancy of a baby with trisomy 13 if the baby does
not have any immediate life- threatening problems. For
babies that have survived their first 30 days of life, 47% were
alive at one year About 13% of children born with trisomy 13
survive until 10 years of age.

What causes trisomy 13?

Sometimes, an error occurs when the egg or sperm cell is
forming, causing it to have an extra chromosome When this
cell contributes the extra chromosome 13 to the embryo,
trisomy 13 results. The extra chromosome 13 can come from
either the mother's egg cell or the father's sperm cell. The
abnormalities seen in babies with trisomy 13 result from
having this extra chromosome 13 in each of the body's cells.
The incidence of this form of trisomy 13 is increased with
maternal age. Fifty per cent of babies born with trisomy 13
survive beyond their first 7.5-125 days About 20% of babies
born with trisomy 13 survive the first year of life. It is difficult
to predict the life expectancy of a baby with trisomy 13 if the
baby does not have any immediate life-threatening
problems. For babies that have survived their first 30 days of
life, 47% were alive at one year About 13% of children born
with trisomy 13 survive until 10 years of age.
 CAT-CRY SYNDROME
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p
minus) syndrome, is a chromosomal condition that results
when a place of chromosome 5 is missing.

PHYSICAL SYMPTOMS:
Infants with this condition often have a high-pitched cry that
sounds like that of a cal. The disorder is characterized by
intellectual disability and delayed development, small head
size (microcephaly), low birth weight, and weak muscle lone
(hypotonia) in infancy, affected individuals also have
distinctive facial features, including widely set eyes
(hyperfelorism), low-set ears, a small jaw, and a rounded
face. Some children with cri-du-chat syndrome are born with
a heart defect.
 EDWARD SYNDROME
Trisomy 18, also called Edwards syndrome, is a chromosomal
condition associated with abnormalities in many parts of the
body.

PHYSICAL SYMPTOMS:
Individuals with trisomy 18 often have slow growth before
birth (intrauterine growth retardation) and a low birth
weight. Affected individuals may have heart defects and
abnormalities of other organs that develop before birth.
Other features of trisomy 18, Include a small abnormally
shaped head, a small law and mouth, and clenched fists with
overlapping fingers. Due to the presence of several life-
threatening medical problems, many individuals with trisomy
18 die before birth or within their first month Five to 10
percent of children with this condition live past their first
year, and these children often have severe intellectual
disability.
 TAY SAC DISEASE
A rare, inherited disorder that destroys nerve cells in the
brain and spinal cord.Tay-Sachs disease is caused by a genetic
mutation in the HEXA geneson chromosome 15. It is
inherited from a person's parents in anautosomal recessive
manner.

SYMPTOMS

Muscular muscle weakness, problems with coordination,

rhythmic muscle contractions, or stiff muscles Whole body
feeling faint or

wasting away Also common difficulty swallowing, hearing

loss, impaired voice, seizures, or vision loss.
 JACOB SYNDROME
XYY syndrome is a genetic condition in which a male has an
extra y chromosome.The condition is generally not inherited
from a person's parents but rather occurs as a result of a
random event during sperm cell development. Diagnosis is by
a chromosomal analysis. There are 47 chromosomes, instead
of the usual 46, giving a 47 XYY karyotype.

PHYSICAL SYMPTOMS:
i) an autism diagnosis
ii) attention difficulties
iii) delayed motor skill development, such as with writin
iv) delayed or difficult speech
v) emotional or behavioral issues
vi) hand trembling or involuntary muscle movements
vii) hypotonia (weak muscle tone)
viii) In adults, infertility is a possible symptom of XYY
syndrome.
 CONCLUSION

Due to chromosomal aberration during the fertilisation due

to abnormal distribution of chromosome, many genetically
abnormalities are seen in the offspring. Probably there is no
cure of several diseases due to chromosomal aberration.
Karyotyping can be done from blood, hair, or any other
tissue. However, most karyotyping for medical diagnostic
purposes is done on embryonic or fetal cells from unborn
babies still in the uterus.The cells are usually collected by one
of two methods:- amniocentesis or chorionic villi sampling
Preliminary testing is now commonly done with a less
invasive ultrasound examination of the foetus within the
uterus and an analysis of specific foetal chemicals in the
mother's blood. The goal of all of these tests is to determine
whether or not the baby will be abnormal. This information
can be the basis for a decision to perform an abortion or to
prepare parents for the difficulties of raising a child with
serious abnormalities and health problems.