Down's syndrome: Causes, symptoms & diagnosis - Science & Technology

Q.  Which of the following statements are true about Down's syndrome?

1. Down syndrome is a genetic disorder.
2. It is caused by the presence of all or part of a third copy of chromosome 22.
3. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability.
4. Down syndrome can not be identified during pregnancy.

- Published on 11 Jul 15

a. 1,2,3
b. 1,3
c. 1,3,4
d. All of the above

ANSWER: 1,3
 
Down syndrome s caused by the presence of all or part of a third copy of chromosome 21. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated.

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