A nine year old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+q). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.
|Original language||English (US)|
|Number of pages||5|
|Journal||Journal of Medical Genetics|
|State||Published - Dec 1 1973|
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