Article
Indication for genetic testing: a checklist for Rett syndrome.
The Journal of pediatrics - 1 Mar 2003
Huppke Peter, Köhler Karola, Laccone Franco, Hanefeld Folker
Abstract excerpt
OBJECTIVE: We reevaluated 49 girls with either Rett syndrome (RTT) or features of RTT who had negative test results for mutations in the MECP2 gene and compared them with 49 girls who had positive test results. The girls with MECP2-positive results included 2 girls with forme fruste and 2 with congenital RTT. Study design Based on the original diagnostic criteria for RTT, we developed a 10-item checklist with a...
Topics
- Child
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- DNA-Binding Proteins
- Female
- Genetic Testing
- Humans
- Methyl-CpG-Binding Protein 2
- Mutation
- Repressor Proteins
- Rett Syndrome