一项针对智力发育迟缓女性群体的细胞遗传学研究，特别关注脆性X综合征。
A cytogenetic study of a population of retarded females with special reference to the fragile (X) syndrome.
作者信息
Mayer M, Abruzzo M A, Jacobs P A, Yee S C
出版信息
Hum Genet. 1985;69(3):206-8. doi: 10.1007/BF00293025.
PMID:3980014
Abstract
A cytogenetic survey of a population of 278 mentally retarded females on community placement is described. Thirty-five females had an aneuploid chromosome constitution and a single female was found to have the fra(X) syndrome. The frequency of the fra(X) syndrome among female retardates is discussed together with the apparent absence of de novo mutants among this class of fra(X) probands.
摘要
本文描述了对278名社区安置的智力发育迟缓女性群体进行的细胞遗传学调查。35名女性具有非整倍体染色体组成，并且发现一名女性患有脆性X综合征。本文讨论了脆性X综合征在女性智力发育迟缓者中的发生率，以及在这类脆性X综合征先证者中明显不存在新发突变的情况。
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