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一名具有推定Y/Y易位的男性,于法医精神科被观察到。

A man with presumptive Y/Y translocation, observed in a forensic psychiatric department.

作者信息

Wahlström J, Akesson H O, Eriksson B

出版信息

Clin Genet. 1976 Aug;10(2NA-NA-760903-760909):82-8. doi: 10.1111/j.1399-0004.1976.tb00017.x.

Abstract

A man charged with a sexual offence was found to have complex karyotype anomaly, including a Y-chromosome of aberrant structure. Other features were: very small stature, skeletal deformities and obscure neurological defects. There were no gross psychiatric symptoms, nor was there mental retardation. Q- and G-banding and photometric scanning of the chromosomes of the propositus and his three healthy brothers indicated that the aberrant Y-chromosome probably arose from a reciprocal translocation, which may be written: t(Y: Y) (qter leads to p11: : q11 leads to qter). Fibroblast cultures differed from the lymphocytes: in the former the majority of the cells lacked the abnormal Y-chromosome, their karyotype being 45,X0.

摘要

一名被控性犯罪的男子被发现有复杂的核型异常,包括一条结构异常的Y染色体。其他特征为:身材极矮小、骨骼畸形和不明原因的神经缺陷。没有明显的精神症状,也没有智力迟钝。对先证者及其三个健康兄弟的染色体进行Q带和G带分析以及光度扫描表明,异常的Y染色体可能源于相互易位,可写成:t(Y:Y)(qter→p11::q11→qter)。成纤维细胞培养与淋巴细胞不同:在前者中,大多数细胞缺乏异常的Y染色体,其核型为45,X0。

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