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.

journal_name

Fetal Diagn Ther

authors

Santolaya-Forgas J,Cohen L,Vengalil S,Field F,Rodriguez A,McCorquadale M,McCorquadale DJ

doi

10.1159/000264422

subject

Has Abstract

pub_date

1997-01-01 00:00:00

pages

36-9

issue

1

eissn

1015-3837

issn

1421-9964

journal_volume

12

pub_type

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