title: Prenatal exclusion of Stickler syndrome.
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 theta = 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.
authors.affiliation: Department of Human Genetics, Hadassah Medical Center, Jerusalem, Israel.
authors.forename: J
authors.initials: J
authors.lastname: Zlotogora
authors.forename: M
authors.initials: M
authors.lastname: Granat
authors.forename: R G
authors.initials: RG
authors.lastname: Knowlton
mesh_terms: D015193:Chorionic Villi Sampling; D003094:Collagen / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics*; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D009216:Myopia / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012164:Retinal Diseases / Q000235:genetics; D013577:Syndrome
chemical_list: D003094:Collagen