由于家族性平衡易位导致的2号染色体短臂部分三体性。
Partial trisomy for the short arm of chromosome 2 due to familial balance translocation.
作者信息
Sekhon G S, Taysi K, Rath R
出版信息
Hum Genet. 1978 Oct 19;44(1):99-103. doi: 10.1007/BF00283579.
PMID:711241
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).
摘要
在一名患有面部、骨骼、生殖器、肾脏和中枢神经系统异常的严重发育迟缓婴儿中，观察到2号染色体短臂（p21至pter）的部分三体。表型正常的母亲和哥哥有2号染色体短臂与14号染色体长臂之间的平衡易位：46,XX-XY,t(2;14)(p21;q32)。
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