title: Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.
abstract: 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. This finding could explain features of connective tissue disorders such as joint laxity and hypotonia or joint stiffness and epiphyseal dysplasia, particularly documented by congenital dislocation of the radial head. Karyotype-phenotype correlations with reference to published cases are discussed.
authors.affiliation: Institut für Humangenetik, Friedrich-Alexander Universität Erlangen, Nürnberg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Rauch
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: U
authors.initials: U
authors.lastname: Trautmann
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D003094:Collagen / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000235:genetics* / Q000503:physiopathology; D019066:Facies; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype
chemical_list: D003094:Collagen