Article
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).
American journal of human genetics - 1 Dec 1991
Huang T H, Hejtmancik J F, Edwards A, Pettigrew A L, Herrera C A, Hammond H A, Caskey C T, Zoghbi H Y, Ledbetter D H
Abstract excerpt
We recently reported a new X-linked mental retardation (XLMR) disorder in a four-generation family of Dutch descent. Features included Dandy-Walker malformation, basal ganglia disease, and seizures. Twenty-six family members, including two living affected males and two obligate carriers, were available for study. No evidence of linkage was observed between the disease locus and RFLPs from several X-chromosome...
Topics
- Adenine Nucleotides
- Chromosome Mapping
- Genetic Linkage
- Genetic Variation
- Guanine Nucleotides
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Intellectual Disability
- Pedigree
- Repetitive Sequences, Nucleic Acid