title: A female newborn having mosaicism with near-tetraploidy and trisomy 18.
abstract: Tetraploidy is characterized by the presence of four complete sets of chromosomes in an individual. Full tetraploidy is usually considered lethal. To date, only ten live-births with the condition have been reported. Trisomy 18 without neonatal intensive treatment is also known to be fatal. We report a female newborn who had mosaicism with near-tetraploidy and trisomy 18 (94,XXXX,+18,+18/47,XX,+18). She had features of conditions. The most plausible mechanism of the formation was a failure of cytoplasmic cleavage at the first division of the zygote. The longer survival of the patient compared with the 10 previously reported live-births with non-mosaic tetraploidy may be due to the dominance of the trisomy cells. We suggest that non-tetraploid cells, even when trisomic for chromosome 18, might contribute to longer survival in comparison to non-mosaic tetrapolid patients.
authors.affiliation: Division of Neonatology, Center for Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Wada
authors.affiliation: Division of Pediatrics, University of Tokyo, Tokyo, Japan.
authors.forename: Satsuki
authors.initials: S
authors.lastname: Kakiuchi
authors.affiliation: Division of Pediatrics, Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Mizuguchi
authors.affiliation: Division of Pediatrics, Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Tomoo
authors.initials: T
authors.lastname: Nakamura
authors.affiliation: Division of Neonatology, Center for Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Yushi
authors.initials: Y
authors.lastname: Ito
authors.affiliation: Division of Neonatology, Center for Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Sago
authors.affiliation: Division of Advanced Molecular Medicine, Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D057891:Tetraploidy; D014314:Trisomy / Q000235:genetics* / Q000503:physiopathology; D000073842:Trisomy 18 Syndrome
keywords: mosaicism; newborn; tetraploidy; trisomy 18