Medical Dictionary: Mongolism

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Mongolism: Another name for Down Syndrome.
Mongolism (condition): A chromosome syndrome causing physical effects and mental retardation.
Mongolism (condition): A genetic chromosomal syndrome affecting physical features and usually causing mental retardation. It is caused by having an extra third copy of chromosome 21, usually by a random error in the mother's egg, though a small percentage are familial such as Translocation Down Syndrome (~4-5%) and occur from a chromosomal defect in a parent. Mosaic Down Syndrome occurs around 1% and has milder effects as the patient has a mixture of both normal and trisomy cells. Down Syndrome can be diagnosed prenatally in the womb during pregnancy using several different tests including ultrasound, amniocentesis and CVS. Diagnosis after birth can usually be made from physical and facial features.

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