Sunday, April 12, 2009

Autosomal trisomies

Autosomal trisomies in man
Of the 22 autosomes in man, only three occur
regularly as trisomies in live-born infants:
trisomy 21, trisomy 18, and trisomy 13. They
differ in phenotype and course of disease. Other
trisomies are not observed in live-born infants
because they are lethal in early embryonic life,
and not compatible with life at birth (see
p. 402). Trisomy 21 causes the clinical picture of
Down syndrome (formerly called mongolism).

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