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一个小的单带近着丝粒倒位inv(4)(p15.3p16.3)

A small one-band paracentric inversion inv (4) (p15.3p16.3).

作者信息

Smith A, Watt A J, Cummins M, Gardner R J, Wilson M

机构信息

Cytogenetics Laboratory, Children's Hospital, Camperdown, Sydney, Australie.

出版信息

Ann Genet. 1992;35(3):161-3.

PMID:1466565
Abstract

A neonate with aniridia was found to have a one band paracentric inversion of the short arm of chromosome 4. This was initially difficult to interpret on high resolution banding. The inversion was present in three generations of the family.

摘要

一名患有无虹膜症的新生儿被发现其4号染色体短臂存在一种单带近着丝粒倒位。在高分辨率显带分析时,最初很难对其进行解读。这种倒位在该家族的三代人中都存在。

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