title: Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics.
abstract: A case is presented in which X-linked ichthyosis was diagnosed prenatally using fluorescence in situ hybridization. Fetal sex was known by second trimester ultrasound in a woman with very low second trimester MSUE3. All of the 15 maternal peripheral blood metaphase spreads examined displayed two hybridization signals on one X chromosome (one in the steroid sulfatase region (Xp22.3) and one in the centromeric region), but only one hybridization signal (in the X centromeric region) on the other X chromosome. Thus, one of the X chromosome had a deletion in the Xp22.3 region, a result which was consistent with carrier status for steroid sulfatase deficiency and X-linked ichthyosis. In the 15 metaphase spreads that were examined from the amniotic fluid sample, the X chromosome displayed one hybridization signal in the control region, but no hybridization signal in the steroid sulfatase region. Thus, the X chromosome of this male fetus had a deletion in the steroid sulfatase region, a result that was consistent and demonstrated postpartum X-linked ichthyosis.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, University of Illinois at Chicago 60612, USA.
authors.forename: J
authors.initials: J
authors.lastname: Santolaya-Forgas
authors.forename: L
authors.initials: L
authors.lastname: Cohen
authors.forename: S
authors.initials: S
authors.lastname: Vengalil
authors.forename: F
authors.initials: F
authors.lastname: Field
authors.forename: A
authors.initials: A
authors.lastname: Rodriguez
authors.forename: M
authors.initials: M
authors.lastname: McCorquadale
authors.forename: D J
authors.initials: DJ
authors.lastname: McCorquadale
mesh_terms: D000328:Adult; D001192:Arylsulfatases / Q000235:genetics; D002503:Centromere; D005260:Female; D017353:Gene Deletion; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D043266:Steryl-Sulfatase; D014960:X Chromosome
chemical_list: D001192:Arylsulfatases; D043266:Steryl-Sulfatase