Nonspecific X-linked mental retardation (XLMR) is a common disorder. The number of genes involved in this condition is not known, but it is estimated to be more than 10. We present a clinical and linkage study on 3 families with XLMR. All families were analyzed using highly polymorphic markers cover
Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21
✍ Scribed by Badenas, Celia ;Castellv�-Bel, Sergi ;Volpini, Victor ;Jim�nez, Dolores ;S�nchez, Aurora ;Estivill, Xavier ;Mil�, Montserrat
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 115 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0148-7299
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We report on a large 5-generation family with "nonspecific" X-linked mental retardation. Nine living affected males have an I& between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. Two obligate carrier females had borderline intellectual abi
The identification of X-linked mental retardation genes (XLMR) represents a challenge of considerable medical importance, given the reported high cumulative frequency of this heterogenous disorder, estimated at approximately 1/600 male births. Whereas pooling families is useful to fine-map genetic l
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 s