Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization

Akira Namba; Miyuki Nishiyama; Joseph J Weiser; Phillip Wyatt; Machiko Kimura; Rei Niizawa; Akinori Miki; Osamu Ishihara; Atsuo Itakura; Yoshimasa Kamei

doi:10.1002/ccr3.22

Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization

Clin Case Rep. 2013 Dec;1(2):50-3. doi: 10.1002/ccr3.22. Epub 2013 Oct 9.

Authors

Affiliations

¹ Department of Obstetrics and Gynecology, Saitama Medical University Iruma-gun, Saitama, Japan.
² LabCorp Japan Chuo-ku, Tokyo, Japan.
³ Integrated Genetics Santa Fe, New Mexico.

PMID: 25356211
PMCID: PMC4184748
DOI: 10.1002/ccr3.22

Abstract

Maternal serum screening-positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46,XY). Further analyses proved that the fetus had extremely complex rearrangements of chromosome 21, including the interstitial duplication of Down syndrome critical region.

Keywords: DSCR; Down syndrome; aCGH; chromosome 21; interphase FISH; metaphase FISH.

Publication types

Case Reports