Down Syndrome

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[edit] Down Syndrome (Also Known As "Trisomy 21")

This is the most common genetic abnormality. It develops when the age of the mother is older. As women get their babies often beyond their 30-th birthday, this feared syndrome has become more common.

These individuals have a characteristic facial appearance with a broad nasal bridge and a protruding tongue. Small, low set ears are another characteristic. These individuals often do not live as long as genetically normal individuals as they have a high precentage of heart abnormalities and a weak immune system making them more prone to frequent respiratory infections and leukemia.

Perhaps the most important defect is that they suffer from a more or less severe mental retardation, which necessitates them to be cared for for the rest of their lives.

Here are some statistics (modified from Ref. 18, p.221), which show how many live births with genetic abnormalities are born to pregnant women in different age groups. There is clearly a trend toward higher genetic abnormalities in the age group above 30.

Effect of the age of mother on the risk for chromosomal abnormalities in the fetus
Maternal age (years):	Down syndrome:	Any chromosomal abnormality:
20	1 in 1670	1 in 530
25	1 in 1250	1 in 480
30	1 in 950	1 in 380
35	1 in 390	1 in 200
40	1 in 110	1 in 70

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Chromosomal Abnormalities

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