Article
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
Clinical genetics - 1 Jul 2013
Rio M, Royer G, Gobin S, de Blois M C, Ozilou C, Bernheim A, Nizon M, Munnich A, Bonnefont J-P, Romana S, Vekemans M, Turleau C, Malan V
Abstract excerpt
Although discordant phenotypes in monozygotic twins with developmental disorder are not an exception, underlying genetic discordance is rarely reported. Here, we report on the clinical and cytogenetic details of 4-year-old female monozygotic twins with discordant phenotypes. Twin 1 exhibited global developmental delay, overweight and hyperactivity. Twin 2 had an autistic spectrum disorder. Molecular karyotyping...
Topics
- Autistic Disorder
- Child, Preschool
- Chromosomes, Human, Pair 2
- Comparative Genomic Hybridization
- Developmental Disabilities
- Diseases in Twins
- Female
- Genotype
- Humans
- In Situ Hybridization, Fluorescence