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一名儿童因父源性臂间插入倒位导致间质性3p缺失。

Interstitial 3p deletion in a child due to paternal paracentric inserted inversion.

作者信息

Wyandt H E, Kasprzak R, Ennis J, Willson K, Koch V, Schnatterly P, Wilson W, Kelly T E

出版信息

Am J Hum Genet. 1980 Sep;32(5):731-5.

Abstract

An infant with multiple anomalies and developmental delay during his first year was found to have an intersitital deletion of band p14 from the proximal short arm of chromosome 3. Examination of the father's chromosomes indicates an "inserted paracentric inversion" in chromosome 3 as the probable origin of the deletion in the child.

摘要

一名在出生后第一年出现多种异常和发育迟缓的婴儿,被发现其3号染色体短臂近端p14带存在间质缺失。对父亲染色体的检查表明,3号染色体中的“插入性臂内倒位”可能是导致孩子出现该缺失的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88e9/1686100/268e55dbd6a3/ajhg00191-0096-a.jpg

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