COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome

Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5.

Authors

Céline Dupont¹, Clarisse Baumann, Nathalie Le Du, Elise Schaefer, Fabien Guimiot, Lucile Boutaud, Yline Capri, Emmanuel Spaggiari, Azzedine Aboura, Brigitte Benzacken, Anne-Claude Tabet

Affiliation

¹ AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.

PMID: 23918474
DOI: 10.1002/ajmg.a.36081

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Arthritis / diagnosis
Arthritis / genetics*
Child
Chromosome Banding
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 15
Collagen Type II / genetics*
Comparative Genomic Hybridization
Connective Tissue Diseases / diagnosis
Connective Tissue Diseases / genetics*
Female
Hearing Loss, Sensorineural / diagnosis
Hearing Loss, Sensorineural / genetics*
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Male
Pregnancy
Retinal Detachment / diagnosis
Retinal Detachment / genetics*
Translocation, Genetic*

Substances

COL2A1 protein, human
Collagen Type II

Supplementary concepts

Stickler syndrome, type 1