[Duchenne's muscular dystrophy in a girl with 45,X/46,XX chromosomal mosaicism].
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.
D002648:Child; D005260:Female; D006801:Humans; D009030:Mosaicism; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
Myshechnaia distrofiia Diushenna u devochki s khromosomnym mozaitsizmom 45,X/46,XX.