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通过连续复制带型确定的4p15.3带的间质缺失。

Interstitial deletion of the band 4p15.3 defined by sequential replication banding.

作者信息

Davies J, Voullaire L, Bankier A

机构信息

Victorian Clinical Genetics Services, Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.

出版信息

Ann Genet. 1990;33(2):92-5.

PMID:2241091
Abstract

A 15-year-old boy with intellectual disability was found to have a de novo interstitial deletion in the short arm of chromosome 4. Using GTL banding and sequential replication banding the deleted band was found to be the more terminal of the two G dark sub-bands of 4p15, that is 4p15.3. The karyotype was defined as 46,XY,del(4)(p15.2p16.100). To our knowledge this specific deletion has not been previously described.

摘要

一名15岁智力残疾男孩被发现4号染色体短臂存在新发间质性缺失。采用GTL显带和连续复制显带技术,发现缺失带位于4p15两个G暗亚带中更靠近末端的那个,即4p15.3。核型定义为46,XY,del(4)(p15.2p16.100)。据我们所知,此前尚未描述过这种特定的缺失。

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