一个家族性臂内倒位inv(1)(q42q44)导致一名儿童具有del(1)(q42)核型。
A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype.
作者信息
Speevak M, Hunter A G, Hughes H, Cox D M
出版信息
Ann Genet. 1985;28(3):177-80.
PMID:3879153
Abstract
The derivation of a 46,XY,del(1)(q42) chromosome complement in a mentally retarded child from a maternal paracentric inv(1)(q42q44) is discussed and the clinical findings are compared to previously reported cases of the same deletion syndrome.
摘要
本文讨论了一名患有智力障碍儿童的46,XY,del(1)(q42)染色体核型的起源，其母亲为1号染色体臂间倒位inv(1)(q42q44)，并将该患儿的临床发现与先前报道的相同缺失综合征病例进行了比较。
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