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.
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.
Dunger
D B
DB
Davies
K E
KE
Pembrey
M
M
Lake
B
B
Pearson
P
P
Williams
D
D
Whitfield
A
A
Dillon
M J
MJ
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
D014280:Triglycerides; D004247:DNA; D010770:Phosphotransferases; D005991:Glycerol Kinase; D005990:Glycerol