title: The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): clinical report.
abstract: We report on a 32-year-old woman who presented at gestational age of 14 weeks. During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad nose), heart defects (single atrium, single ventricle), agenesis of corpus callosum, limb defects (clenched hands, pes equinovarus). Chorionic villus sampling and karyotyping revealed diploid/tetraploid mosaicism with trisomy 18 (mixoploidy; 4n+18/2n+18). Her second pregnancy was terminated because of the same clinical manifestations 1 year prior. Her first pregnancy resulted in the birth of an entirely healthy boy. As far as know, no other similar case has been presented in the literature.
authors: Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children, Ankara, Turkey.
authors: Sibel
authors: S
authors: Ozler
authors: Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children, Ankara, Turkey.
authors: Ali O
authors: AO
authors: Ersoy
authors: Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children, Ankara, Turkey.
authors: Efser
authors: E
authors: Oztas
authors: Department of Medical Genetics in Zekai Tahir Burak Education and Research Hospital of Women and Children, Ankara, Turkey.
authors: Vehap
authors: V
authors: Topcu
authors: Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children, Ankara, Turkey.
authors: Sevki
authors: S
authors: Celen
authors: Department of Perinatology in Zekai Tahir Burak Education and Research Hospital of Women and Children, Ankara, Turkey.
authors: Nuri
authors: N
authors: Danisman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D005260:Female; D005333:Fetus; D006321:Heart / Q000503:physiopathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011003:Ploidies; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics* / Q000473:pathology*; D000073842:Trisomy 18 Syndrome; D016216:Ultrasonography, Prenatal
keywords: recurrent diploid/tetraploid mosaicism; trisomy 18