Complex chromosomal rearrangement in a mentally retarded boy without gross dysmorphic stigmata.
作者信息
Fryns J P, Kleczkowska A, Lebas E, Goffaux P, Van den Berghe H
出版信息
Acta Paediatr Scand. 1984 Jan;73(1):138-40. doi: 10.1111/j.1651-2227.1984.tb09914.x.
Abstract
A boy with severe mental retardation and complex, apparently balanced chromosomal rearrangement (CCR) of autosomes 1, 3 and 5 is described. This complex chromosomal rearrangement involved three translocations and one insertion; five breakpoints were found, at 1p31, 3p22, 3p26, 5p14 and 5q23.
摘要
Zotero 插件