Abstract
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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Adrenal Insufficiency / genetics*
-
Child
-
Chromosome Banding
-
Chromosome Deletion*
-
Chromosome Mapping
-
Female
-
Glycerol / urine
-
Glycerol Kinase / deficiency*
-
Glycerol Kinase / genetics
-
Humans
-
Lymphocytes / ultrastructure
-
Male
-
Muscular Dystrophies / genetics*
-
Pedigree
-
Phosphotransferases / deficiency*
-
Sex Chromosome Aberrations / genetics*
-
X Chromosome*
Substances
-
Phosphotransferases
-
Glycerol Kinase
-
Glycerol