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[由于母亲的X/15平衡易位导致的15号染色体长臂远端部分的部分三体性]

[Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].

作者信息

Zabel B, Baumann W

出版信息

Ann Genet. 1977 Dec;20(4):285-9.

PMID:305759
Abstract

Partial trisomy for the distal part of 15q due to a balanced maternal translocation t(X;15) is described in a 21-month old girl with growth and psychomotor retardation and a cranio-facial dysmorphism ressembling that of a previously reported patient. Treatment of lymphocytes with BrdU has shown inactivation of the normal X in the mother, and inactivation of either the abnormal or the normal X in the proposita. When the abnormal X was inactivated, the extent of inactivation of the autosome was variable.

摘要

一名21个月大的女孩因母亲的平衡易位t(X;15)导致15q远端部分三体,表现出生长和精神运动发育迟缓以及颅面畸形,与之前报道的一名患者相似。用溴脱氧尿苷(BrdU)处理淋巴细胞显示,母亲体内正常的X染色体失活,而在该患者中,异常或正常的X染色体均有失活。当异常的X染色体失活时,常染色体的失活程度是可变的。

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