与先天性异常相关的臂间倒位和4q部分单体性。

Pericentric inversion and partial monosomy 4q associated with congenital anomalies.

作者信息

Serville F, Broustet A

出版信息

Hum Genet. 1977 Nov 10;39(2):239-42. doi: 10.1007/BF00287019.

DOI:10.1007/BF00287019

Abstract

A case of complex structural rearrangement of chromosome 4 identified by R-banding as 46,XX,del(4),inv(4)(pter leads to 16::q24 leads to p16::q32 leads to qter) is reported in an infant with congenital anomalies and psychomotor retardation.

摘要

报告了1例染色体4复杂结构重排的病例，通过R显带鉴定为46,XX,del(4),inv(4)(pter→16::q24→p16::q32→qter)，该病例为一名患有先天性异常和精神运动发育迟缓的婴儿。

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本文引用的文献

1

Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies.

J Med Genet. 1973 Mar;10(1):83-5. doi: 10.1136/jmg.10.1.83.

2

A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)].

J Med Genet. 1975 Jun;12(2):204-7. doi: 10.1136/jmg.12.2.204.