Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. From our findings, we propose that the human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band.
D000309:Adrenal Insufficiency / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005260:Female; D005990:Glycerol / Q000652:urine; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D010770:Phosphotransferases / Q000172:deficiency*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
D010770:Phosphotransferases; D005991:Glycerol Kinase; D005990:Glycerol