一名性腺发育不全患者中的X-X易位及表型-核型相关性问题

X-X translocation in a patient with gonadal dysgenesis and the problems of phenotype-karyotype correlations.

作者信息

Mirzayants G G, Baranovskaya L I

出版信息

Hum Genet. 1978 Feb 16;40(3):249-57. doi: 10.1007/BF00272185.

Abstract

A sex-chromatin-positive woman without stunted growth, but with primary amenorrhea, and some stigmas of pure gonadal dysgenesis had the chromosome constitution 45,X/46,Xt(X;X)(q27;q27). The abnormal chromosome formed a large Barr body and was late-labeling. The chromosome consisted of two X chromosomes attached by their long arms (end-to-end), both apparently having the partial distal deletion. Both centromeric regions showed C-staining but only one constriction. The chromosome is interpreted as an isodicentric with only one centromere functioning. Some problems of phenotype-karyotype correlations are discussed.

摘要

一名性染色质阳性的女性，无生长发育迟缓，但有原发性闭经，且有一些单纯性腺发育不全的体征，其染色体组成为45,X/46,Xt(X;X)(q27;q27)。异常染色体形成一个大的巴氏小体，且标记较晚。该染色体由两条通过长臂（端对端）相连的X染色体组成，两条染色体显然都有部分远端缺失。两个着丝粒区域均显示C带染色，但只有一个缢痕。该染色体被解释为只有一个着丝粒起作用的等臂双着丝粒染色体。文中讨论了一些表型与核型相关性的问题。