Familial partial duplication (1)(p21p31).
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.
Hoechstetter
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Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.
Soukup
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Schorry
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D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics / Q000648:ultrastructure*; D002972:Cleft Palate / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree