PMID: 8606880Nov 1, 1995Paper

Mosaicism for trisomy 12: four cases with varying outcomes

Prenatal Diagnosis
F Z BischoffL G Shaffer

Abstract

Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and l...Continue Reading

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Citations

Mar 23, 2011·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·R ParasuramanD T Howe
Apr 4, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
May 16, 2012·American Journal of Medical Genetics. Part a·Walla Al-HertaniJudith E Allanson
Nov 22, 2011·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Lyn S ChittyLisa Levett
Apr 19, 2016·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Wallisa RobertsMarios Loukas
Mar 28, 2017·American Journal of Medical Genetics. Part a·Bo HongReha M Toydemir
Feb 12, 2011·Cytogenetic and Genome Research·I Lebedev
Jan 9, 2001·American Journal of Medical Genetics·C D DeLozier-BlanchetC J Curry
Nov 23, 2006·Prenatal Diagnosis·Barbara GentilinFaustina Lalatta
Apr 2, 2019·Cytogenetic and Genome Research·Yanca GaspariniLeslie D Kulikowski
Mar 8, 2000·The Veterinary Record·A DucosR Darré
Mar 25, 2021·American Journal of Medical Genetics. Part a·Xiaolin HuLoren Pena

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