Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
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.
McGaughran
J M
JM
Department of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom.
Clayton
P T
PT
Mills
K A
KA
Rimmer
S
S
Moore
L
L
Donnai
D
D
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
D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol