PMID- 22416454 OWN - NLM STAT- MEDLINE DCOM- 20120717 LR - 20120315 IS - 0047-1860 (Print) IS - 0047-1860 (Linking) VI - 60 IP - 1 DP - 2012 Jan TI - [Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available]. PG - 32-6 AB - 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. FAU - Takezawa, Yuka AU - Takezawa Y FAU - Kosho, Tomoki AU - Kosho T FAU - Matsuda, Kazuyuki AU - Matsuda K FAU - Taira, Chiaki AU - Taira C FAU - Ito, Yurika AU - Ito Y FAU - Hidaka, Eiko AU - Hidaka E FAU - Sugano, Mitsutoshi AU - Sugano M FAU - Narumi, Yoko AU - Narumi Y FAU - Mizuuchi, Asako AU - Mizuuchi A FAU - Kobara, Hisanori AU - Kobara H FAU - Wakui, Keiko AU - Wakui K FAU - Okumura, Nobuo AU - Okumura N FAU - Fukushima, Yoshimitsu AU - Fukushima Y FAU - Honda, Takayuki AU - Honda T LA - jpn PT - Case Reports PT - English Abstract PT - Journal Article PL - Japan TA - Rinsho Byori JT - Rinsho byori. The Japanese journal of clinical pathology JID - 2984781R SB - IM MH - Adult MH - Chorionic Villi MH - Chromosome Aberrations/*embryology MH - Chromosomes, Human/genetics MH - Female MH - Fetal Death/*etiology MH - Genetic Counseling MH - Humans MH - In Situ Hybridization/*methods MH - Male MH - Mouth Mucosa/*cytology/*embryology MH - Pregnancy MH - Syndrome MH - *Triploidy EDAT- 2012/03/16 06:00 MHDA- 2012/07/18 06:00 CRDT- 2012/03/16 06:00 PHST- 2012/03/16 06:00 [entrez] PHST- 2012/03/16 06:00 [pubmed] PHST- 2012/07/18 06:00 [medline] PST - ppublish SO - Rinsho Byori. 2012 Jan;60(1):32-6.