(also Down syndrome)
A congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy (trisomy-21).
- This is an accurate way of finding out whether the baby has a number of genetic or inherited disorders, such as Down's syndrome or cystic fibrosis.
- In Down's syndrome, an extra copy of chromosome number 21 is included when the sperm and the egg come together to form the embryo.
- For that reason society offers testing for Down's syndrome, haemophilia, cystic fibrosis, and a range of other genetic conditions.
1960s: named after John L. H. Down (1828–96), the English physician who first described it.
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