早发性自闭症谱系障碍双胞胎的染色体研究结果

Chromosome findings in twins with early-onset autistic disorder.

作者信息

Wahlström J, Steffenburg S, Hellgren L, Gillberg C

机构信息

Department of Clinical Genetics, University of Göteborg, Sweden.

出版信息

Am J Med Genet. 1989 Jan;32(1):19-21. doi: 10.1002/ajmg.1320320105.

DOI:10.1002/ajmg.1320320105

PMID:2705478

Abstract

In a twin study of autistic disorder, chromosome analyses were carried out in nine pairs of monozygotic (MZ) twins, two pairs of dizygotic (DZ) twins, one set of MZ triplets, one single twin from a MZ pair, and seven single twins from DZ pairs. All but one of the MZ sets were concordant for autistic disorder; all DZ pairs were discordant. Fragile X(q)(27.3) was found in one pair of MZ twins and in MZ triplets, i.e., in 9% of the population with autistic disorder. A marker chromosome of unknown origin was detected in a male twin with autistic disorder from a discordant DZ pair.

摘要

在一项自闭症谱系障碍的双胞胎研究中，对9对同卵双胞胎、2对异卵双胞胎、一组同卵三胞胎、一对同卵双胞胎中的一个单胎以及7个异卵双胞胎单胎进行了染色体分析。除了一对同卵双胞胎外，其他所有同卵双胞胎组在自闭症谱系障碍方面都是一致的；所有异卵双胞胎对都是不一致的。在一对同卵双胞胎和同卵三胞胎中发现了脆性X（q）（27.3），即在9%的自闭症谱系障碍人群中发现了该情况。在一对不一致的异卵双胞胎中，一名患有自闭症谱系障碍的男性双胞胎检测到一条来源不明的标记染色体。