Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.

Travessa, André

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. [electronic resource] - Taiwanese journal of obstetrics & gynecology Aug 2017 - 541-544 p. digital

Publication Type: Case Reports; Journal Article

1875-6263

10.1016/j.tjog.2017.01.012 doi


Adult
Amniotic Fluid--chemistry
Cholestadienols--analysis
Chorionic Villi Sampling
Dehydrocholesterols--analysis
Diagnosis, Differential
Female
Holoprosencephaly--diagnosis
Homozygote
Humans
Karyotype
Mutation
Pregnancy
Prenatal Diagnosis--methods
Smith-Lemli-Opitz Syndrome--diagnosis