家族性部分重复（1）（p21p31）。
Familial partial duplication (1)(p21p31).
作者信息
Hoechstetter L, Soukup S, Schorry E K
机构信息
Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.
出版信息
Am J Med Genet. 1995 Nov 20;59(3):291-4. doi: 10.1002/ajmg.1320590305.
PMID:8599351
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.
摘要
在一名患有智力发育迟缓、腭裂和多种轻微异常的30岁女性中，发现了一个部分重复（1）（p21p31），其源于母亲的直接插入（13,1）（q22p21p31）。另外两名受影响且已去世的亲属被推测具有相同的染色体不平衡。对1p重复病例进行了综述。
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