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一名特纳综合征患者存在45,X/47,XYY嵌合体。

45,X/47,XYY mosaicism in a patient with Turner's syndrome.

作者信息

Lisker R, Ruz L, Mutchinick O

出版信息

Hum Genet. 1978 Mar 17;41(2):231-3. doi: 10.1007/BF00273106.

Abstract

A patient with classical Turner's syndrome and a 45,X/47,XYY mosaicism is described. Each cell line was present in approximately equal amounts in the peripheral blood lymphocytes, while in fibroblasts derived from skin and both gonads only the 45,X karyotype was present. It is suggested that the latter fact is responsible for the patient not having the mixed gonadal dysgenesis syndrome or tumor formation in both streak gonads.

摘要

本文描述了一名患有典型特纳综合征且存在45,X/47,XYY嵌合体的患者。外周血淋巴细胞中每种细胞系的含量大致相等,而在来自皮肤和双侧性腺的成纤维细胞中,仅存在45,X核型。有人认为,后一事实是该患者未出现混合性性腺发育不全综合征或双侧条索状性腺肿瘤形成的原因。

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