Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen‐related disorders
- 28 June 1996
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 49 (6) , 279-285
- https://doi.org/10.1111/j.1399-0004.1996.tb03789.x
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.Keywords
This publication has 27 references indexed in Scilit:
- Deletion of chromosome 2q24‐q31 causes characteristic digital anomalies: Case report and reviewAmerican Journal of Medical Genetics, 1995
- Deletion (2) (q37)American Journal of Medical Genetics, 1994
- Deletions of 2q: Is there a 2q- syndrome?American Journal of Medical Genetics, 1994
- Mosaicism with a normal cell line and an autosomal structural rearrangement.Journal of Medical Genetics, 1994
- Autopsy findings in a severely affected infant with a 2q terminal deletionAmerican Journal of Medical Genetics, 1993
- Fluorescence in Situ Hybridization Mapping of 25 Markers on Distal Human Chromosome 2q Surrounding the Human Waardenburg Syndrome, Type I (WS1) Locus (PAX3 Gene)Genomics, 1993
- Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boyAmerican Journal of Medical Genetics, 1992
- Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type IHuman Molecular Genetics, 1992
- Abnormal chromosome complement resulting from a familial inversion of chromosome 2.Journal of Medical Genetics, 1989
- A case of deletion 2q35----qter and a peculiar phenotype.Journal of Medical Genetics, 1984