title: Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.
abstract: Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker Syndrome postnatally. G banded chromosome analysis revealed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1-,RARA+, SRY+, DYZ3+) by G-banding analysis using high resolution banding technique. Fetal delayed cortical development will be the findings to perform further investigations including fluorescence in situ hybridization analysis for MDS, a 17p13.3 microdeletion syndrome, pre/postnatally. This will be the first case of MDS with unbalanced translocation between deleted short arm of chromosome 17 and Y chromosome.
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Mishima
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Watari
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Iwaki
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Takumi
authors.initials: T
authors.lastname: Nagai
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Kawamata-Nakamura
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Yukako
authors.initials: Y
authors.lastname: Kobayashi
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Fujieda
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Mamoru
authors.initials: M
authors.lastname: Oikawa
authors.affiliation: Neonatal Intensive Care Unit, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Takahashi
authors.affiliation: Neonatal Intensive Care Unit, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Mitsuaki
authors.initials: M
authors.lastname: Keira
authors.affiliation: Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yoshida
authors.affiliation: Pediatrics, Bokoi Tenshi Hospital, Sapporo, Hokkaido, Japan.
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Tonoki
mesh_terms: D000328:Adult; D002871:Chromosome Banding / Q000379:methods*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*
keywords: Fluorescence in situ hybridization; Miller-Dieker Syndrome; lissencephaly