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智障中心自闭症脆性X携带者的细胞遗传学调查

Cytogenetic survey for autistic fragile X carriers in a mental retardation center.

作者信息

Cantú E S, Stone J W, Wing A A, Langee H R, Williams C A

机构信息

University of Florida College of Medicine.

出版信息

Am J Ment Retard. 1990 Jan;94(4):442-7.

PMID:2297426
Abstract

A cytogenetic survey of 67 individuals previously identified as having mental retardation and autistic behaviors revealed 1 person (1.5%) with the fragile X chromosome (fra[X]) and 3 (4.5%) with autosome abnormalities. This low prevalence of fra(X) indicates that most persons with fra(X) in this mental retardation center did not have autistic behaviors severe enough to be identified as a secondary psychiatric diagnosis. The presence of other chromosomal abnormalities is consistent with the known causal heterogeneity of autism in mental retardation populations.

摘要

对67名先前被确定为患有智力迟钝和自闭症行为的个体进行的细胞遗传学调查显示,1人(1.5%)有脆性X染色体(fra[X]),3人(4.5%)有常染色体异常。fra(X)的这种低患病率表明,该智力迟钝中心的大多数fra(X)患者没有严重到足以被确定为继发性精神疾病诊断的自闭症行为。其他染色体异常的存在与智力迟钝人群中已知的自闭症因果异质性相一致。

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