A prematurely born infant with the manifestations of Down syndrome and congenital monocytic leukemia was found, by Q and R banding, to have the karyotype 48,XY,+21,+21. This appears to be the first case of tetrasomy 21 documented by banding. Clinically, the infant was indistinguishable from trisomic Down syndrome patients. He died at 4 days of respiratory insufficiency owing to hyaline membrane disease and E coli septicemia.
|Original language||English (US)|
|Number of pages||5|
|Journal||American Journal of Medical Genetics|
|State||Published - 1982|
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