Article
X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.
Clinical genetics - 1 Mar 1994
Gendrot C, Ronce N, Toutain A, Moizard M P, Müh J P, Raynaud M, Dourlens J, Briault S, Moraine C
Abstract excerpt
Gene localization was determined by linkage analysis in a large French family with X-linked mental retardation (MRX). Seven living affected males were clinically studied and the clinical picture was characterized by moderate to severe mental handicap with poor secondary speech acquisition. Seizur...
Topics
- Adult
- Centromere
- Child
- Chromosome Mapping
- Female
- Genetic Linkage
- Humans
- Intellectual Disability
- Lod Score
- Male
- Pedigree
- Phenotype
- Sequence Analysis, DNA
- Sex Chromosome Aberrations
- X Chromosome