Article
Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.
American journal of medical genetics. Part A - 1 Dec 2016
Di-Battista Adriana, Meloni Vera Ayres, da Silva Magnus Dias, Moysés-Oliveira Mariana, Melaragno Maria Isabel
Abstract excerpt
In females carrying structural rearrangements of an X-chromosome, cells with the best dosage balance are preferentially selected, frequently resulting in a skewed inactivation pattern and amelioration of the phenotype. The Xp11.23-p11.22 region is involved in a recently described microduplication syndrome associated with severe clinical consequences in males and females, causing intellectual disability, behavior...
Topics
- Chromosome Duplication
- Chromosomes, Human, X
- Electroencephalography
- Facies
- Female
- Genetic Association Studies
- Heterozygote
- Humans
- Infant, Newborn
- Phenotype
- Physical Examination
- X Chromosome Inactivation