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Prenat Diagn. 2001 Oct;21(10):852-5.

Familial X centromere variant resulting in false-positive prenatal diagnosis of monosomy X by interphase FISH.

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  • 1Department of Pathology, Vanderbilt University Medical Center, Nashville, TN 37232-2561, USA.


Interphase fluorescent in situ hybridization (FISH) analysis performed on uncultured amniotic fluid cells from a female fetus revealed a single signal using an X chromosome alpha-satellite probe, and the absence of any signal using a Y chromosome alpha-satellite probe. This result was initially interpreted as monosomy for the X chromosome in the fetus. Subsequent chromosome analysis from the cultured amniotic fluid cells showed two apparently normal X chromosomes. FISH using the X alpha-satellite probe on metaphase spreads revealed hybridization to both X chromosomes, although one signal was markedly reduced compared to the other. The same hybridization pattern was observed in the mother of the fetus. This is the first report of a rare familial X centromere variant resulting in a false-positive diagnosis of monosomy X by interphase FISH analysis for prenatal diagnosis.

Copyright 2001 John Wiley & Sons, Ltd.

[PubMed - indexed for MEDLINE]
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