title: Familial X centromere variant resulting in false-positive prenatal diagnosis of monosomy X by interphase FISH.
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.
authors.affiliation: Department of Pathology, Vanderbilt University Medical Center, Nashville, TN 37232-2561, USA. karen.tsuchiya@mcmail.vanderbilt.edu
authors.forename: K
authors.initials: K
authors.lastname: Tsuchiya
authors.forename: M G
authors.initials: MG
authors.lastname: Schueler
authors.forename: V G
authors.initials: VG
authors.lastname: Dev
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002503:Centromere / Q000648:ultrastructure*; D002871:Chromosome Banding; D005189:False Positive Reactions; D005260:Female; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D009006:Monosomy; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D014960:X Chromosome / Q000648:ultrastructure*