Down Syndrome

Trisomy 21
 Down Syndrome
• Trisomy 21 is the most common genetic cause of
moderate mental retardation.

• The incidence of Down syndrome in live births is

approximately 1 in 733.

• The life expectancy for children with Down

syndrome is reduced and is approximately 50 to
55 yr.
 Down Syndrome
• This risk of having a child with trisomy 21 is
highest in women who conceive at > 35 yr of age.

• All women should be offered screening for Down

syndrome in their 2nd trimester by means of 4
maternal serum tests (free β –human horionic
gonadotropin ( β -hCG), unconjugated estriol,
inhibin, and α -fetoprotein).
 Types of Down Syndrome
Trisomy 21 (Nondisjunction), the most common type of Down
syndrome, occurs when there are three, rather than two, number
21 chromosomes present in every cell of the body. Instead of the
usual 46 chromosomes, a person with Down syndrome has
47.Trisomy 21 accounts for 95% of cases.

Translocation accounts for 4% of all cases of Down syndrome. In

translocation, part of chromosome 21 breaks off during cell
division and attaches to another chromosome, typically
chromosome 14.

Mosaicism occurs when nondisjunction of chromosome 21 takes

place in one – but not all – of the initial cell divisions after
fertilization. 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.