title: Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
abstract: In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients. It is likely that both boys have a deletion at Xp21 affecting a number of closely linked disease-specific gene loci.
authors.forename: D B
authors.initials: DB
authors.lastname: Dunger
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: M
authors.initials: M
authors.lastname: Pembrey
authors.forename: B
authors.initials: B
authors.lastname: Lake
authors.forename: P
authors.initials: P
authors.lastname: Pearson
authors.forename: D
authors.initials: D
authors.lastname: Williams
authors.forename: A
authors.initials: A
authors.lastname: Whitfield
authors.forename: M J
authors.initials: MJ
authors.lastname: Dillon
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis*; D005990:Glycerol / Q000097:blood / Q000652:urine; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010770:Phosphotransferases / Q000172:deficiency*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014280:Triglycerides / Q000097:blood; D014960:X Chromosome
chemical_list: D014280:Triglycerides; D004247:DNA; D010770:Phosphotransferases; D005991:Glycerol Kinase; D005990:Glycerol