Familial X centromere variant resulting in false-positive prenatal diagnosis of monosomy X by interphase FISH |
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Authors: | Karen Tsuchiya Mary G Schueler V G Dev |
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Institution: | 1. Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA;2. Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH, USA;3. Genetics Associates, Inc., Nashville, TN, USA |
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Abstract: | 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. |
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Keywords: | interphase FISH prenatal diagnosis X centromere |
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