title: Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution.
abstract: We report on a 4-year-old girl with Duchenne muscular dystrophy (DMD). One of her sisters had grossly elevated serum creatine-kinase and pyruvate-kinase levels, and one of her maternal great uncles was presumptively affected by DMD. Cytogenetic analysis showed a 45,X/46,XX/47,XXX chromosome constitution. The maternally inherited DMD gene is presumed to be present on the single X of the 45,X cell line.
mesh_terms: D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D009006:Monosomy; D009030:Mosaicism; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*; D011770:Pyruvate Kinase / Q000097:blood; D014314:Trisomy; D014960:X Chromosome
chemical_list: D011770:Pyruvate Kinase; D003402:Creatine Kinase