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具有47,XXXY qs,t(9p-;Xq+)核型的X-常染色体易位

X-autosome translocation with a 47,XXXY qs,t(9p-;Xq+) karyotype.

作者信息

Dumars K W, Reed P, Lawce H J

出版信息

Birth Defects Orig Artic Ser. 1975;11(5):247-53.

PMID:1240775
Abstract

A male with a karyotype 47,XXXY qs,t(9p-;Xq+) was ascertained utilizing ASG-banding. The karyotype was repeated because the original diagnosis of Klinefelter syndrome (47,XXY) was inconsistent with many of the stigmata present. It is suggested that many karyotypes completed prior to the advent of banding techniques will be repeated in an attempt to provide more accurate diagnosis, describe more aberrations, and possibly establish new syndromes.

摘要

一名核型为47,XXXY qs,t(9p-;Xq+)的男性通过ASG显带技术得以确诊。由于最初诊断的克兰费尔特综合征(47,XXY)与该患者出现的许多体征不符,因此对其核型进行了复查。有人提出,在显带技术出现之前完成的许多核型分析可能需要重新进行,以便提供更准确的诊断,描述更多的畸变情况,并有可能确立新的综合征。

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