轻度智力迟钝者的染色体畸变

Chromosomal aberrations in the mildly mentally retarded.

作者信息

Göstason R, Wahlström J, Johannisson T, Holmqvist D

机构信息

Social Board of the Kopparberg County Council, Falun, Sweden.

出版信息

J Ment Defic Res. 1991 Jun;35 ( Pt 3):240-6. doi: 10.1111/j.1365-2788.1991.tb01057.x.

DOI:10.1111/j.1365-2788.1991.tb01057.x

PMID:1833552

Abstract

Chromosome analyses were performed on 52 mildly mentally retarded adults and a control group representing the non-retarded population. Chromosomal aberrations were found in 19.2% of the mentally retarded and in 1.9% of the controls. The aberrations in the retarded group consisted of trisomy 21, fragile-X, sex-chromosome aberrations and balanced translocations. The index group included a man with a fragile site Xp22.1. The aberration in the control group consisted of a karyotype with an extra marker chromosome.

摘要

对52名轻度智力发育迟缓的成年人以及一组代表非智力发育迟缓人群的对照组进行了染色体分析。在19.2%的智力发育迟缓者和1.9%的对照组中发现了染色体畸变。智力发育迟缓组的畸变包括21三体、脆性X、性染色体畸变和平衡易位。指标组中有一名男性带有脆性位点Xp22.1。对照组的畸变由带有一条额外标记染色体的核型组成。