Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

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.

• Authors: J A Bartley, S Patil, S Davenport, D Goldstein, J Pickens
• Journal: The Journal of pediatrics (J Pediatr) Vol. 108 Issue 2 Pg. 189-92 (Feb 1986) ISSN: 0022-3476 [Print] United States
• PMID: 3003318 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Phosphotransferases
• Glycerol Kinase
• Glycerol

Topics

• Adrenal Insufficiency (genetics)
• Child
• Chromosome Banding
• Chromosome Deletion
• Chromosome Mapping
• Female
• Glycerol (urine)
• Glycerol Kinase (deficiency, genetics)
• Humans
• Lymphocytes (ultrastructure)
• Male
• Muscular Dystrophies (genetics)
• Pedigree
• Phosphotransferases (deficiency)
• Sex Chromosome Aberrations (genetics)
• X Chromosome