Article
Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.
American journal of human genetics - 1 Jul 1994
Wolff D J, Brown C J, Schwartz S, Duncan A M, Surti U, Willard H F
Abstract excerpt
The abnormal phenotype and/or mental retardation seen in persons with small marker X (mar(X)) chromosomes has been hypothesized to be due to the loss of the X inactivation center (XIC) at Xq13.2, resulting in two active copies of genes in the pericentromeric region. In order to define precisely t...
Topics
- Adult
- Centromere
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Mapping
- Dosage Compensation, Genetic
- Female
- Gene Deletion
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Karyotyping
- Male
- Mosaicism
- Phenotype