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Hum Genet. 1978 Oct 19;44(1):99-103.

Partial trisomy for the short arm of chromosome 2 due to familial balance translocation.

Abstract

A partial trisomy for the short arm of chromosome 2 (p21 leads to pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the long arm of chromosome 14: 46, XX-XY,t(2;14)(p21;q32).

PMID:
711241
[PubMed - indexed for MEDLINE]
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