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Am J Med Genet. 1995 Nov 20;59(3):291-4.

Familial partial duplication (1)(p21p31).

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  • 1Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.

Abstract

A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed.

PMID:
8599351
[PubMed - indexed for MEDLINE]
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