Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution. - Suppr | 超能文献

Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution.

作者信息

Sano M, Saito F, Yamamoto K, Tonomura A, Tsukagoshi H

出版信息

Jinrui Idengaku Zasshi. 1987 Sep;32(3):257-62. doi: 10.1007/BF01876881.

DOI:10.1007/BF01876881

Abstract

摘要

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Duchenne muscular dystrophy in a female with 45,X/46,XX chromosome constitution.

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Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution.一名染色体组成为45,X/46,XX/47,XXX的女孩患杜氏肌营养不良症。

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Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation.一名患有X；常染色体易位的女孩患特纳综合征和杜氏肌营养不良症。

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[Duchenne muscular dystrophy carrier presenting with mosaic X chromosome constitution and muscular symptoms--with analysis of the barr bodies in the muscle].表现为嵌合型X染色体构成及肌肉症状的杜氏肌营养不良症携带者——兼对肌肉中的巴氏小体进行分析

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[Duchenne's muscular dystrophy in a girl with 45,X/46,XX chromosomal mosaicism].[一名患有45,X/46,XX染色体嵌合体的女孩的杜兴氏肌营养不良症]

Zh Nevropatol Psikhiatr Im S S Korsakova. 1977;77(10):1449-52.

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De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.

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Germline mosaicism and Duchenne muscular dystrophy mutations.种系嵌合现象与杜氏肌营养不良症突变

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Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.杜氏肌营养不良症家族中一个点突变和生殖系嵌合体的鉴定。

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[Normal 46,XX daughter born to a 45,X/46,X,del(X)(q25) deletion (author's transl)].

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Duchenne muscular dystrophy in a girl with an (X;15) translocation.一名患有（X；15）易位的女孩的杜兴氏肌营养不良症。

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引用本文的文献

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Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case.特纳综合征嵌合体 45,X/46,XY 伴生殖器模糊和杜氏肌营养不良症：罕见意大利病例的转化方法。

Int J Mol Sci. 2022 Nov 19;23(22):14408. doi: 10.3390/ijms232214408.

2

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.152 例特纳综合征患者的双重诊断：对第二状况的认识可能会导致治疗和/或监测的改变。

Am J Med Genet A. 2018 Nov;176(11):2435-2445. doi: 10.1002/ajmg.a.40470. Epub 2018 Aug 6.