Aver'ianov Iu N, Bogomazov E A, Logunova L V
Zh Nevropatol Psikhiatr Im S S Korsakova. 1977;77(10):1449-52.
The paper is concerned with a case history of a girl with a rare combination of 2 rare anomalies (only 4 cases in the world literature); monosomia by X chromosome and Duchenne's muscular dystrophy. Mosaicism 45,X/46,XX in a 5 year old girl with a mild picture of Duchenne's muscular dystrophy was confirmed by a study of the kariotype in lymphocytes of the peripheral blood and skin fibroblasts. The authors indicate to a necessity of a thorough cytogenetical study in girls, if there is a clinical picture of Duchennes muscular dystrophy.
本文关注一名患有两种罕见异常（世界文献中仅有4例）罕见组合的女孩的病例史；X染色体单体症和杜兴氏肌营养不良症。通过对外周血淋巴细胞和皮肤成纤维细胞的核型研究，证实了一名5岁患有轻度杜兴氏肌营养不良症的女孩存在45,X/46,XX嵌合体。作者指出，如果女孩有杜兴氏肌营养不良症的临床表现，有必要进行全面的细胞遗传学研究。
