一名轻度智力发育迟缓儿童发生涉及四条染色体和五个断点的复杂双易位。
A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.
作者信息
Couzin D A, Watt J L, Auchterlonie I A
出版信息
J Med Genet. 1983 Oct;20(5):389-92. doi: 10.1136/jmg.20.5.389.
Abstract
A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.
摘要
一名6岁男孩有语言发育迟缓及轻度智力障碍（智商82），被发现有涉及四条染色体和总共五个断点的复杂双易位，其中两个断点在同一条染色体臂上。这导致其核型为46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13)。据作者所知，这是首次报道这种复杂双易位。其父母核型均正常。
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