对日本一家智障机构的449名患者进行的细胞遗传学调查。

A cytogenetic survey of 449 patients in a Japanese institution for the mentally retarded.

作者信息

Kondo I, Hamaguchi H, Nakajima S, Haneda T

出版信息

Clin Genet. 1980;17(3):177-82. doi: 10.1111/j.1399-0004.1980.tb00130.x.

DOI:10.1111/j.1399-0004.1980.tb00130.x

Abstract

A cytogenetic survey was carried out on 449 patients (261 males and 188 females) in an institution for the mentally retarded in Japan. A total of 37 patients (8.1%) were shown to have chromosome abnormalities. There were 33 individuals (7.3%) with 21 trisomy. In addition, we found one patient with 46,XY/47,XY,+12p, one with 46,XY,r(22), and one with 45,XY,-13,-14,+t(13q14q). Only one female was found to have an abnormal sex chromosome constitution, 47,XXX. The significant contribution of chromosome abnormalities in the etiology of mental retardation is also shown in the present survey. The most common chromosome abnormality was 21 trisomy, as seen in other similar surveys.

摘要

对日本一家智障机构的449名患者（261名男性和188名女性）进行了细胞遗传学调查。共有37名患者（8.1%）被证明存在染色体异常。有33人（7.3%）为21三体。此外，我们发现1例患者核型为46,XY/47,XY,+12p，1例为46,XY,r(22)，1例为45,XY,-13,-14,+t(13q14q)。仅发现1名女性具有异常性染色体组成，即47,XXX。本次调查也显示了染色体异常在智力迟钝病因学中的重要作用。正如其他类似调查所见，最常见的染色体异常是21三体。