Article
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.
European journal of human genetics : EJHG - 1 Mar 2001
Rosenberg C, Wouters C H, Szuhai K, Dorland R, Pearson P, Poll-The B T, Colombijn R M, Breuning M, Lindhout D
Abstract excerpt
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, characterised by regression of development in young females. Recently, mutations in the MECP2 gene were found to be present in 80% of sporadic cases, but in much lower frequency (< 30%) among familial cases. Several reports claim that the pattern of X chromosome inactivation (XCI) relates to the penetrance of RTT; in some cases skewed XCI is seen in...
Topics
- Dosage Compensation, Genetic
- Genetic Heterogeneity
- Genetic Linkage
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Mutation
- Rett Syndrome
- Ring Chromosomes
- X Chromosome