title: Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
abstract: An abnormality in cholesterol synthesis was described recently in the Smith-Lemli-Opitz (SLO) syndrome. Here we describe how the application of this finding has enabled an accurate prenatal diagnosis. We also discuss the possible use of this test in detecting heterozygotes.
authors.affiliation: Department of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom.
authors.forename: J M
authors.initials: JM
authors.lastname: McGaughran
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: K A
authors.initials: KA
authors.lastname: Mills
authors.forename: S
authors.initials: S
authors.lastname: Rimmer
authors.forename: L
authors.initials: L
authors.lastname: Moore
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry*; D002784:Cholesterol / Q000032:analysis / Q000378:metabolism*; D003684:Dehydrocholesterols / Q000032:analysis; D006801:Humans; D007621:Karyotyping; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome
chemical_list: D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol