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[因母亲发生15号与21号染色体易位t(15;21) (q26.2; q21)导致的21号染色体部分三体]

[Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].

作者信息

Raoul O, Carpentier S, Dutrillaux B, Mallet R, Lejeune J

出版信息

Ann Genet. 1976 Sep;19(3):187-90.

PMID:136225
Abstract

A balanced reciprocal translocation, t(15;21) (q262;q21) was observed in the mother and maternal grandfather of two patients. The propositus, who received the abnormal chromosome 15 from his mother, is trisomic for the distal part of chromosome 21, and his phenotype is that of classical trisomy 21. His sister, who is trisomic for the proximal part of 21q, is slightly retarded but developmentally normal otherwise.

摘要

在两名患者的母亲和外祖父中观察到一种平衡的相互易位,即t(15;21)(q262;q21)。先证者从母亲那里遗传了异常的15号染色体,其21号染色体远端三体,其表型为典型的21三体综合征。他的姐姐21号染色体长臂近端三体,智力稍有迟缓,但其他方面发育正常。

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