Article
Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome).
American journal of medical genetics - 1 Jan 2000
Watty A, Prieto F, Beneyto M, Neugebauer M, Gal A
Abstract excerpt
A mapping study was performed on a 3-generation Spanish family with X-linked syndromal mental retardation. Affected males have a typical facial appearance, ear malformations, abnormal growth of teeth, clinodactyly, dimpled skin at the lower back, and patellar luxation. In pneumoencephalography a...
Topics
- Abnormalities, Multiple
- Chromosome Mapping
- Female
- Genetic Markers
- Humans
- Intellectual Disability
- Male
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- Syndrome
- X Chromosome
