Article
Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.
Clinical genetics - 1 Jun 1996
Rauch A, Pfeiffer R A, Trautmann U
Abstract excerpt
Two new cases of del(2)(q37.1) and one case of partial trp(2)(q37) are studied by FISH with cosmid probes from the COL6A3 and PAX3 genes mapped in 2q37.3 and 2q36, respectively. While the PAX3 gene dosage appeared unaffected, the COL6A3 gene was found to be deleted and triplicated, respectively....
Topics
- Adolescent
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 2
- Collagen
- Connective Tissue Diseases
- Facies
- Female
- Gene Deletion
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Phenotype