CONTENT or INDEX :-

 Down Syndrome

 Down Syndrome Causes

 Down Syndrome Types

 Down Syndrome Symptoms

 Down Syndrome Diagnosis
 Down Syndrome Prevention
. DOWN SYNDROME:-
Down syndrome  Definition  :–
It is a genetic disorder, which leads to various physical and mental
disabilities. It is due to the presence of an extra chromosome 21 also
known as trisomy of chromosome 21 . Down syndrome is one of the
leading causes of genetic disorders around the world.

It is named after the physician Langdon Down, who first observed this
condition.

Other than physical attributes and mental retardedness, they are also
susceptible to various diseases like leukaemia and Alzheimer’s. There is
no cure, only the quality of life can be improved by taking extra care and
training the individual to perform daily essential activities . Down
syndrome can be diagnosed during early screening in pregnancy, which
can decrease the occurrence of disease.

Or
“a condition that some people are born with . People with this condition
have a flat, wide face and lower than average intelligepnce.”
Karyotype of Down’s syndrome (Trisomy of Chromosome 21)

. Down Syndrome Causes:-

Down syndrome is a chromosomal disorder. It is due to aneuploidy of
the autosome. There is one extra chromosome 21 or part of the
chromosome present in all the cells or some cells.
The occurrence of Down syndrome is 1:800 live births. The major risk
factor is the age of the mother. Most of the trisomy cases occur in the
mother having age more than 35.
Down syndrome is caused due to abnormal cell division. During mitotic
and meiotic cell division the chromosome pair separate so that each cell
gets a copy of each chromosome. In down syndrome, the chromosomes
are not able to separate, giving rise to cells with an unequal number of
chromosomes. This phenomenon is called nondisjunction.
Nondisjunction happens, when chromosome segregates in anaphase
before all of the replicated chromosomes’ kinetochores are attached to
microtubules from opposite poles during metaphase. It results in one
daughter cell having one less chromosome and another with one extra
chromosome.

Down syndrome is also due to the translocation of a part of a

chromosome to another chromosome. The number of chromosomes is
normal but one chromosome has an extra part of chromosome 21.
There is no genetic information missing in these individuals but the extra
copy of genes of chromosome 21 causes abnormal physical and mental
development.
Down syndrome is mostly not inherited. Translocation Down syndrome
can be passed from parent to child. It might be hidden in the parent due
to balanced translocation with no symptoms but can pass the unbalanced
translocation to the child and cause Down syndrome.
The life span of an individual with Down syndrome is around 60 years,
it depends on the number of health complications present.

. Down Syndrome Types:-

Down syndrome is of three types: Trisomy 21, Mosaicism and
Translocation
1. Trisomy of chromosome 21: Trisomy is the most common type of
Down syndrome. It accounts for 95% of cases of Down syndrome.
There is one extra chromosome 21. The total number of chromosome
present is 47 instead of the normal 46 chromosomes.
The main cause of trisomy is Nondisjunction of chromosome 21 during
meiosis at the time of gamete formation. The abnormal cell with trisomy
of chromosome 21 is fertilised giving rise to trisomy in all the cells of

the foetus.
2. Mosaicism: This is the rare form of Down syndrome, accounting for
only 1% of the total cases.
In this type of Down Syndrome, some cells are normal having 46
chromosomes and some cells have abnormal 47 chromosomes.
Symptoms may be less prominent in mosaicism.
Mosaicism is caused when nondisjunction occurs during mitotic division
in the zygote after fertilization. It results in some normal cells and some
cells with trisomy of 21.
3. Translocation Down Syndrome: This type of Down syndrome
accounts for 4% of the total cases.
Here an extra chromosome 21 is not present but there is an extra part of
the chromosome 21 present attached to a different chromosome. Total
46 chromosomes are present of which one is abnormal.
This is due to the translocation of the long arm (q arm) of chromosome
21 to another chromosome during the replication process. The extra
portion often gets translocated to chromosome 14. So a person with
translocation Down syndrome contains one chromosome 14, one
chromosome 14/21 and a pair of normal chromosome 21 . Its occurrence
is not related to the mother’s age and it may run in families

. Down Syndrome Symptoms:-

Individuals with down syndrome are borne with many abnormalities .
They are found to have physical and mental disabilities. They have poor
immunity and are prone to get many diseases. They reach developmental
milestones at a later age than normal. Many times they are found to be
borne with congenital heart defects, thyroid disease, sleep apnea,
gastrointestinal defects. They are more susceptible to get diseases like
leukaemia and Alzheimer’s.
People with down syndrome can be easily identified by their physical
attributes and facial features. Slowly after they are borne different
symptoms start appearing. Infants may be of normal size but as they
grow slowly, their height remains much less than those of the same age.

The main symptoms of Down syndrome are :-

 Short stature and stunted growth
 Fold of the skin above the eye, slanted eyes
 Protruding furrowed tongue, flattened nose
 Mental retardation
 Cardiac deformities
 Single transverse palm crease and hand is broad and short
 Poor muscle tone and excessive flexibility
 Small head, short neck and abnormal teeth
 Delay in language development
 Cognitive impairment may be mild to moderate

 Down Syndrome Prevention:-

- There's no way to prevent Down syndrome. If you're at high risk of
having a child with Down syndrome or you already have one child
with Down syndrome, you may want to consult a genetic counselor
before becoming pregnant. A genetic counselor can help you
understand your chances of having a child with Down syndrome .