Article
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?
American journal of medical genetics - 15 Apr 1993
Passos-Bueno M R, Byth B C, Rosenberg S, Takata R I, Bakker E, Beggs A H, Pavanello R C, Vainzof M, Davies K E, Zatz M
Abstract excerpt
X-linked mental retardation (XLMR) can be subdivided into syndromic and nonsyndromic or nonspecific. Patients with non-syndromal XLMR show no characteristic manifestations, biochemical defects, or distinct fragile sites. Nevertheless, nonspecific XLMR seems to be heterogeneous. To determine the n...
Topics
- Adolescent
- Adult
- Child
- Chromosome Mapping
- Female
- Genes, Recessive
- Genetic Linkage
- Genetic Markers
- Humans
- Intellectual Disability
- Lod Score
- Male
- Middle Aged
- Pedigree
- Phenotype