title: [Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available].
abstract: The proband was a male fetus who died at 18 weeks of gestation. The fetus had growth retardation, hydrocephalus, exophthalmos, and micrognathia. The placental villus was not available. We performed interphase fluorescence in situ hybridization (FISH) using buccal cells of the fetus. The FISH using centromere specific probes for chromosome 7, 8 and 18, and RB1 gene (13q14)-specific probe showed three signals for each chromosome. The sex chromosome composition was XXY by FISH using centromere-specific probes for X and Y chromosomes. Thus, the fetus was diagnosed with triploidy syndrome. This report suggested that interphase FISH using buccal cells is useful for examining chromosomal abnormalities in intrauterine fetal death when placental villus is not available.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Takezawa
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Matsuda
authors.forename: Chiaki
authors.initials: C
authors.lastname: Taira
authors.forename: Yurika
authors.initials: Y
authors.lastname: Ito
authors.forename: Eiko
authors.initials: E
authors.lastname: Hidaka
authors.forename: Mitsutoshi
authors.initials: M
authors.lastname: Sugano
authors.forename: Yoko
authors.initials: Y
authors.lastname: Narumi
authors.forename: Asako
authors.initials: A
authors.lastname: Mizuuchi
authors.forename: Hisanori
authors.initials: H
authors.lastname: Kobara
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Nobuo
authors.initials: N
authors.lastname: Okumura
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Takayuki
authors.initials: T
authors.lastname: Honda
mesh_terms: D000328:Adult; D002824:Chorionic Villi; D002869:Chromosome Aberrations / Q000196:embryology*; D002877:Chromosomes, Human / Q000235:genetics; D005260:Female; D005313:Fetal Death / Q000209:etiology*; D005817:Genetic Counseling; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods*; D008297:Male; D009061:Mouth Mucosa / Q000166:cytology* / Q000196:embryology*; D011247:Pregnancy; D013577:Syndrome; D057885:Triploidy