Article
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
Clinical genetics - 1 Apr 2005
Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson E C R, Holden J J A, Lewis M E S, Rajcan-Separovic E
Abstract excerpt
Cri du Chat syndrome (CdCs) is a well-defined clinical entity, with an incidence of 1/15,000 to 1/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat-like cry sublocalized to 5p15.3 and the remaining clinical features to 5p15.2. We report findings in a subject with a de novo t(5;7)(p15.2;p12.2) and an inv(3)(p24q24), who was found to have a cryptic microdeletion in the critical...
Topics
- Adolescent
- Autistic Disorder
- Child
- Child, Preschool
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 3
- Chromosomes, Human, Pair 5
- Cri-du-Chat Syndrome
- Female