Downs Sydrome Level

M.Adeeb - posted on 03/21/2014 ( 1 mom has responded )




My baby was diagnosed with downs sydrome early after the birth. Dr.dignosed it just by facial symptoms.Kindly tell me which test i conduct to confirm the DS in my son and its level .His age is 3 moths only.


Sharon - posted on 03/21/2014




How is Down syndrome diagnosed?

Down syndrome can be diagnosed in infancy based on the characteristic clinical findings. When Down syndrome is suspected in a person, a genetic test called a chromosome analysis is performed on a blood or skin sample to look for an extra chromosome 21 (trisomy 21). Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies.

Having an extra number 21 chromosome interrupts the normal course of development, causing the characteristic clinical features of Down syndrome. Some people who have Down syndrome have an extra number 21 chromosome in only some of their body's cells. This type of Down syndrome is called mosaic Down syndrome.

A small number of individuals have Down syndrome because part of chromosome 21 becomes attached (translocated) to another chromosome before or at the time of conception. These individuals have two copies of chromosome 21, and additional material from chromosome 21 that is attached to another chromosome. The chromosomes of parents of a child with Down Syndrome caused by a translocation are studied to see whether the translocation was inherited.


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