Article
Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16.
Prenatal diagnosis - 1 Apr 1994
Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu W T, Oeztas S, Pepkowitz S, Graham J M
Abstract excerpt
We report two cases of mosaic trisomy 16 diagnosed by amniocentesis, with dysmorphic findings in both cases evident upon delivery. Following elective termination, case 1 demonstrated a trisomy 16 cell line in fetal skin (4 per cent) and placental tissue (64 per cent). Molecular studies on the disomic cell line indicated that both chromosome 16s were maternal in origin, suggesting loss of the paternal chromosome...
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