Article
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.
American journal of medical genetics - 23 Apr 1999
Gendrot C, Ronce N, Raynaud M, Ayrault A D, Dourlens J, Castelnau P, Muh J P, Chelly J, Moraine C
Abstract excerpt
A genetic linkage study was performed on a large four-generation family with variable nonspecific X-linked mental retardation (MRX16), speech abnormalities, and retardation of all milestones. Significant linkage was found in the Xq28 region with loci DXS52, DXS15, BGN, and DXS1108 with maximum LOD scores of 4.86, 4.01, 4.83, and 5.43, respectively, at theta = 0.00. Recombination was observed at the locus DXS1113,...
Topics
- Chromosome Mapping
- Family
- Female
- Genetic Linkage
- Humans
- Intellectual Disability
- Karyotyping
- Lod Score
- Male
- Neuropsychological Tests
- Pedigree
- Phenotype
- Sequence Analysis, DNA
- X Chromosome
