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  • Title: Prenatal diagnosis of X-linked ichthyosis using molecular cytogenetics.
    Author: Santolaya-Forgas J, Cohen L, Vengalil S, Field F, Rodriguez A, McCorquadale M, McCorquadale DJ.
    Journal: Fetal Diagn Ther; 1997; 12(1):36-9. PubMed ID: 9101220.
    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.
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