title: Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Saitama Medical University Iruma-gun, Saitama, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Namba
authors.affiliation: LabCorp Japan Chuo-ku, Tokyo, Japan.
authors.forename: Miyuki
authors.initials: M
authors.lastname: Nishiyama
authors.affiliation: Integrated Genetics Santa Fe, New Mexico.
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Weiser
authors.affiliation: Integrated Genetics Santa Fe, New Mexico.
authors.forename: Phillip
authors.initials: P
authors.lastname: Wyatt
authors.affiliation: Department of Obstetrics and Gynecology, Saitama Medical University Iruma-gun, Saitama, Japan.
authors.forename: Machiko
authors.initials: M
authors.lastname: Kimura
authors.affiliation: Department of Obstetrics and Gynecology, Saitama Medical University Iruma-gun, Saitama, Japan.
authors.forename: Rei
authors.initials: R
authors.lastname: Niizawa
authors.affiliation: Department of Obstetrics and Gynecology, Saitama Medical University Iruma-gun, Saitama, Japan.
authors.forename: Akinori
authors.initials: A
authors.lastname: Miki
authors.affiliation: Department of Obstetrics and Gynecology, Saitama Medical University Iruma-gun, Saitama, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Ishihara
authors.affiliation: Department of Obstetrics and Gynecology, Saitama Medical University Iruma-gun, Saitama, Japan.
authors.forename: Atsuo
authors.initials: A
authors.lastname: Itakura
authors.affiliation: Department of Obstetrics and Gynecology, Saitama Medical University Iruma-gun, Saitama, Japan.
authors.forename: Yoshimasa
authors.initials: Y
authors.lastname: Kamei
keywords: DSCR; Down syndrome; aCGH; chromosome 21; interphase FISH; metaphase FISH