Article
Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
American journal of medical genetics - 10 Apr 1995
McGaughran J M, Clayton P T, Mills K A, Rimmer S, Moore L, Donnai D
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Amniocentesis
- Amniotic Fluid
- Cholesterol
- Dehydrocholesterols
- Humans
- Karyotyping
- Lipid Metabolism, Inborn Errors
- Male
- Phenotype
- Syndrome