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

• Published in: Prenatal diagnosis Vol. 21; no. 10; pp. 852 - 855
• Main Authors: Tsuchiya, Karen, Schueler, Mary G., Dev, V. G.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01-10-2001; Wiley
• Subjects: Adult; Amniotic Fluid - cytology; Biological and medical sciences; Birth control; Cells, Cultured; Centromere - ultrastructure; Chromosome aberrations; Chromosome Banding; False Positive Reactions; Female; Gestational Age; Gynecology. Andrology. Obstetrics; Humans; In Situ Hybridization, Fluorescence; Interphase; interphase FISH; Karyotyping; Lymphocytes - ultrastructure; Medical genetics; Medical sciences; Monosomy; Pregnancy; prenatal diagnosis; Sex Chromosome Aberrations; Sterility. Assisted procreation; X centromere; X Chromosome - ultrastructure; Chromosomal aberration; False positive; Interphase; In situ; Aneuploidy; Hybridization; Prenatal; Variant; Signal; Centromere; Amniotic fluid; Female; Fetus; Diagnosis; Cell; Monosomy
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.156

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.