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Familial X centromere variant resulting in false‐positive prenatal diagnosis of monosomy X by interphase FISH
Author(s) -
Tsuchiya Karen,
Schueler Mary G.,
Dev V. G.
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.156
Subject(s) - monosomy , fluorescence in situ hybridization , centromere , interphase , biology , metaphase , prenatal diagnosis , microbiology and biotechnology , aneuploidy , amniotic fluid , karyotype , x chromosome , cytogenetics , chromosome , fetus , genetics , pregnancy , gene
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.