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Familial partial duplication (1)(p21p31)
L Hoechstetter1, S Soukup, E K Schorry
1Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.
American Journal of Medical Genetics
|November 20, 1995
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.