title: Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis.
abstract: X-linked ichthyosis (XLI) is a relatively common genetic disorder that occurs in about one in every 2000-6000 male births. Clinically, XLI is characterized by a generalized scaling of the skin, with large, polygonal, dark brown scale, and more prominent on the extensor aspects of the limbs. It is known that an undetectable maternal serum, unconjugated estriol, associated with placental steroid sulfatase (STS) deficiency, may be the cause of cause of XLI. In most case, STS deficiency is caused by a complete or partial deletion of the STS gene mapped on chromosome Xp22.3. We describe here the prenatal detection of a male fetus affected with STS deficiency as a result of an undetectable unconjugated estriol in the second-trimester maternal serum screening. Microdeletion of the STS gene was confirmed by fluorescence in situ hybridization analysis of cultured amniotic fluid.
authors.affiliation: Department of Obstetrics and Gynecology, Fukushima Medical University, Fukushima City, Fukushima, Japan. t-wata@fmu.ac.jp
authors.forename: Takafumi
authors.initials: T
authors.lastname: Watanabe
authors.forename: Keiya
authors.initials: K
authors.lastname: Fujimori
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Kato
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Nomura
authors.forename: Satoshi
authors.initials: S
authors.lastname: Onogi
authors.forename: Akira
authors.initials: A
authors.lastname: Sato
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology*; D015415:Biomarkers / Q000097:blood; D004964:Estriol / Q000097:blood; D005260:Female; D017353:Gene Deletion; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis* / Q000201:enzymology*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D043266:Steryl-Sulfatase / Q000235:genetics
chemical_list: D015415:Biomarkers; D043266:Steryl-Sulfatase; D004964:Estriol