Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome
✍ Scribed by Joanna Liss; Krzysztof Lukaszuk; Anna Bruszczyńska; Zofia Szczerkowska; Krzysztof Rebala
- Book ID
- 116473002
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 86 KB
- Volume
- 90
- Category
- Article
- ISSN
- 1556-5653
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We report here the prenatal diagnosis of Smith-Lemli-Opitz (SLO) syndrome in the first trimester by direct measurement of 7-dehydrocholesterol (7-DHC) in a chorionic villus (CV) biopsy. The proband was diagnosed clinically at birth and the diagnosis was confirmed biochemically by demonstrating eleva
The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the leve