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- Title
Prenatal exclusion of stickler syndrome.
- Authors
Zlotogora, Joel; Granat, Menachem; Knowlton, Robert G.
- Abstract
Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3·91 at θ=0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born.
- Publication
Prenatal Diagnosis, 1994, Vol 14, Issue 2, p145
- ISSN
0197-3851
- Publication type
Article
- DOI
10.1002/pd.1970140211