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DOWN SYNDROME IN A NUTSHELL

What is Down syndrome? Down syndrome (DS) is a chromosomal disorder caused by an extra chromosome on the 21st pair, giving the person a total of 47 rather than 46 chromosomes. There are three basic types: (1) trisomy 21 (about 95% of DS cases), in which there are three number 21 chromosomes instead of two, due to an error in cell division called nondisjunction. (2) translocation (3% to 4% of DS cases), in which the extra chromosome is attached to another pair of chromosomes (in about a third of these cases one of the parents is a carrier, although the carrier is normal, physically and mentally); and (3) mosaic (about 1% of cases), in which some of the cells have 46 chromosomes, and some have 47, with the extra chromosome on the 21st pair.

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