Chromosomal mosaicism is not infrequent, and arises by
postzygotic errors in mitosis. Mosaicism is observed in
conditions such as Turner syndrome and Down syndrome, and
the phenotype is less severe than in cases with complete
aneuploidy. Mosaicism has been documented for many other
numerical or structural chromosomal abnormalities that would
be lethal in non-mosaic form. The clinical importance of
chromosomal mosaicism detected prenatally may be difficult to
assess.
Saturday, April 11, 2009
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