Article
Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.
American journal of medical genetics - 1 Jan 2000
Dennis N R, Curtis G, Macpherson J N, Jacobs P A
Abstract excerpt
In 2 families, propositi were investigated because of mild developmental delay and, in one case, behavior disorders. Seven males in the 2 families were found to have a fragile site at Xq27.3 but the usual insert in the FMR-1 gene was absent. The affected males had mild, or in some cases, no clear intellectual impairment and did not have the Martin-Bell phenotype. Carrier females in one family tended to show a...
Topics
- Adolescent
- Child, Preschool
- Chromosome Fragile Sites
- Chromosome Fragility
- DNA Mutational Analysis
- Female
- Fragile X Syndrome
- Heterozygote
- Humans
- Intelligence
- Male