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Down Syndrome

Down syndrome, also known as trisomy 21, is a genetic disorder caused by an extra copy of chromosome 21, leading to developmental and physical changes. It can occur in three forms: trisomy 21, translocation, and mosaicism, with trisomy 21 being the most common. Diagnosis can be made before or after birth through various methods, and management focuses on education and care to improve the quality of life for affected individuals.

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5 views7 pages

Down Syndrome

Down syndrome, also known as trisomy 21, is a genetic disorder caused by an extra copy of chromosome 21, leading to developmental and physical changes. It can occur in three forms: trisomy 21, translocation, and mosaicism, with trisomy 21 being the most common. Diagnosis can be made before or after birth through various methods, and management focuses on education and care to improve the quality of life for affected individuals.

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jeonkookana
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DOWN SYNDROME (TRISOMY 21)


Down syndrome is a genetic disorder caused when abnormal cell division results in an
extrafull or partial copy of chromosome 21. This extra genetic material causes the
developmental changesandphysical feature changes of Down syndrome individuals.
Research indicate that extra genetic material present in Down syndrome results in over
expression of a portion of 310genes located on chromosome21.Thisover expression has been
estimated at around 50%, due to 3rd copyof chromosome present.Some research suggested
that Down Syndromecritical region is located at bands 21q22.1-21q22.3
In 1866 Langdon down discovered the syndrome called mongoloid idiocyor
mongolism.Downgave this name because of prominence of epicanthic folds in eyelid, a
distinct facial appearance (phenotypic characteristics) of mongoloid race. This condition is
resulted from trisomy of chromosome 21 so it is also called as trisomy 21.
The karyotype of trisomy 21child is 2n+1=47, 21+ i.e. 2n+1=47,XX, 21+ for females with
Down and 2n+1=47,XY,21+ males with Down.
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All affected individuals are very similar and so they appear to be siblings at first glance.
Down syndrome may be associated with thyroid or heart disease.
They are short and may have small round heads, protruding furrowed tongue which cause the
mouth to remain partially open.
They have short, broad hands and fingers with characteristic dermatoglyphic palm and
fingerprint patterns with characteristic simian line.
Physical, psychomotor and mental (intellectual) development is retarded.
Down infants generally donot survive first year after birth and they are prone to respiratory
disease and heart malformations and show an incidence of leukaemia approximately 15 times
higher than normal population.
Consanguineous marriage increases the probability of Down offspring.

Types of Down Syndrome:---


There are three types of Down Syndrome : trisomy 21(nondisjunction), translocation and
mosaicism.

1.Trisomy 21 Down syndrome —


This trisomy 21 condition may originate through nondisjunction of chromosome 21 during
meiosis and such n+1gamete when fertilised by normal gamete, this trisomic condition is
originated. Trisomy 21 is the most common type of Down syndrome, occurs when there are
three, rather than two number of 21 chromosome present in every cell of the body.Instead of
usual 46 chromosomes, a person with Down syndrome has 47. It is additional genetic
material that alters the course of development and causes the characteristics associated with
the syndrome. Trisomy 21 accounts for 95% of cases.In case of trisomy 21, the
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chromosomal abnormality occurs as a random event during the formation of reproductive


cells in a parent. The abnormality usually occurs in egg cells but it occasionallyoccurs in
sperm cells also. An error in cell division called nondisjunction results in reproductive cells
with an abnormal number of chromosomes i.e. an egg or sperm cell may gain an extra copy
of chromosome 21.
Although woman of any age can have a child with Down syndrome but the chance of having
a child with this condition increases as the woman get older.

2.Translocation Down—(Familial Down Syndrome):---


Translocation accounts for 4% of all cases of Down syndrome.Robertsonian translocation,
part of chromosome 21 breaks off during cell division an attaches to another chromosome
typically chromosome 14. While the total number of chromosomes in the cells remain 46, the
presence of an extra part of chromosome 21 causes the characteristics of Down syndrome.
In Robertsonian translocation/ Isochromosome /Ringchromosome,results when the two
long arms of a chromosome separate together rather than normal condition of long and
short arm separating together during egg or sperm development. In this situation the long arm
of chromosome 21 is attached to long arm of another chromosome 14. In a male affected
with Down syndrome, it results in a karyotype of 46XY,t(14q21q). This may be a new
mutation or previously present in one of the parents. The parent with such translocation is
usually normal physically and mentally but during production of egg or sperm cells, a higher
chance of creating reproductive cells with extra chromosome 21 material. However as this
translocation is passed to the next generation it can become unbalanced translocation.
People who inherit an unbalanced translocation involving chromosome 21 may have extra
genetic material of chromosome 21 which actually causes Down syndrome. Some children
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without Down syndrome may inherit the translocation and have a higher probability of
having children of their own with Down syndrome. In this case it is sometimes known as
Familial Down syndrome.

3. Down syndrome due to Mosaicism:-


Mosaicism occurs when nondisjunction of chromosome 21 takes place in one but not all of
the initial cell divisions after fertilization (post zygotic mitotic nondisjunction). When this
occurs there is a mixture of two types of cells, some containing the usual 46 chromosomes
and others containing 47.Mosaicism accounts for about 1% of all cases of Down syndrome.
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DIAGNOSIS-
a. BEFORE BIRTH:
i)AMNIOCENTESIS (SCREENING)

ii) BLOOD TESTS FOR SERUM BIOCHEMICAL MARKERS


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iii) ULTRASOUND–Ultrasound findings that indicate increased risk when seen at 14 to 24


weeks of gestation including a small or no nasal bone, large ventricles, nuchal fold thickness
(Increased foetal Nuchal fold translucency, NT), abnormal right subclavian artery.

b. AFTER BIRTH:

i)PHYSICAL APPEARANCE AT BIRTH

ii)DNA TYPING OF PARENT AND FOETUS USING SHORT TANDEM


REPEATS (STR)

iii) KARYOTYPING
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PRECAUTIONS –
Probability of nondisjunction can be reduced by Folate therapy during pre-pregnancy
and pregnancy period and cause reduction of appearance of Down syndrome.

MANAGEMENT—
Education, proper care and work related training can improve the development of
children with Down syndrome.

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