Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation.
A balanced de novo (X;9) translocation was observed in a patient with progressive muscular dystrophy of Duchenne's type (DMD), Turner's syndrome, epilepsy and mental retardation. The involvement of the paternal X is suggested. The assignment of the gene locus for DMD is confirmed on Xp21.
D000328:Adult; D002871:Chromosome Banding; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007621:Karyotyping; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*