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Mental retardation locus in Xp21 chromosome microdeletion
M H Fries1, R V Lebo, S A Schonberg
1Department of Obstetrics, Gynecology, and Reproductive Science, University of California, San Francisco 94143-0720.
American Journal of Medical Genetics
|June 1, 1993
Summary
Xp21 microdeletion syndrome can cause developmental delay in males and intellectual disability in female carriers. This study identifies a new cause of mental retardation in females linked to Xp21 deletions.
Area of Science:
- Genetics
- Human Genetics
- Clinical Genetics
Background:
- Xp21 microdeletion syndrome involves deletions in the Xp21 chromosomal region, often including the glycerol kinase locus.
- Associated phenotypes include adrenal hypoplasia (AH), glycerol kinase deficiency (GKD), and Duchenne muscular dystrophy (DMD).
- Previous studies focused on affected males, with limited data on female carriers.