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智障男性与正常男性的染色体变异

Chromosomal variants in mentally retarded and normal men.

作者信息

Soudek D, Sroka H

出版信息

Clin Genet. 1979 Aug;16(2):109-16. doi: 10.1111/j.1399-0004.1979.tb00859.x.

Abstract

The possible phenotypic effect of chromosomal variants is as yet an unsolved problem. QM- and C-banded chromosomes of 100 male patients with idiopathic mental retardation were compared with chromosomes of 100 Royal Military College cadets, as controls. Increased size of 9qh seems to be a factor with possible negative effects. 9qh- was found to be more common in the control sample. Another variant found more often in the retarded subjects was 16qh-. Increased frequencies of Yq+ or small inversions in chromosomes 3 and 9 were not found in the retarded.

摘要

染色体变异可能产生的表型效应仍是一个尚未解决的问题。将100例患有特发性智力障碍的男性患者的QM带和C带染色体与作为对照的100名皇家军事学院学员的染色体进行了比较。9qh增大似乎是一个可能具有负面影响的因素。发现9qh-在对照样本中更为常见。在智力迟钝受试者中更常发现的另一种变异是16qh-。在智力迟钝者中未发现Yq+频率增加或3号和9号染色体小倒位频率增加。

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