Prenatal Diagnosis of X-Linked Ichthyosis Using Molecular Cytogenetics
作者:
Joaquin Santolaya-Forgas,
Leslie Cohen,
Shyla Vengalil,
Fiona Field,
Angle Rodriguez,
Maureen McCorquadale,
James McCorquadale,
期刊:
Fetal Diagnosis and Therapy
(Karger Available online 1997)
卷期:
Volume 12,
issue 1
页码: 36-39
ISSN:1015-3837
年代: 1997
DOI:10.1159/000264422
出版商: S. Karger AG
关键词: Prenatal diagnosis;FISH;Low unconjugated estriol;X-linked ichthyosis
数据来源: Karger
摘要:
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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