Article
Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.
American journal of medical genetics - 1 Jan 1990
Journel H, Melki J, Turleau C, Munnich A, de Grouchy J
Abstract excerpt
Rett syndrome (RS) was diagnosed in a girl with a t(X;22) (p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a "forme fruste" of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may be, the localization of a RS related gene to the short...
Topics
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 22
- Female
- Humans
- Karyotyping
- Phenotype
- Rett Syndrome
- Translocation, Genetic
- X Chromosome