Faed M J, Robertson J, Field M A, Mellon J P
Clin Genet. 1979 Sep;16(3):191-204. doi: 10.1111/j.1399-0004.1979.tb00990.x.
A cytogenetic survey of 756 resident, but otherwise unselected, mentally retarded patients in a Scottish hospital is reported. The karyotypes of all patients were examined using orcein-stained cells, and those found to be abnormal, other than those with standard trisomy 21, were further investigated using a banding technique. A total of 103 patients were found to have an abnormal chromosome complement, of whom 91 had Down's syndrome (including six with translocations), six had some other autosomal abnormality, and six had an abnormality of the sex chromosome complement, including two with an XXYY complement. Details of the clinical and cytogenetic features are presented.
报告了对一家苏格兰医院756名常住但未经其他挑选的智障患者进行的细胞遗传学调查。使用地衣红染色细胞检查了所有患者的核型,除标准21三体患者外,发现异常的患者使用显带技术进一步研究。共发现103名患者染色体组成异常,其中91名患有唐氏综合征(包括6名易位型),6名有其他常染色体异常,6名有性染色体组成异常,包括2名XXYY组成。文中呈现了临床和细胞遗传学特征的详细情况。