PMID: 9556035Apr 29, 1998Paper

Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism

Prenatal Diagnosis
S M SirchiaG Simoni

Abstract

Uniparental disomy can be caused by different genetic mechanisms such as gamete complementation, chromosome duplication in monosomic zygote, or post-zygotic aneuploidy correction. This last mechanism is well documented in human reproduction and is related to placental mosaicism. In the case of a trisomic zygote which has originated by paternal or maternal non-disjunction at the first or second meiotic cell division, mosaicism will result from chromosome loss and restoration of a 'normalized' diploid fetal karyotype. In order to enrich the literature with new observations on this subject, we studied by DNA polymorphism analysis ten cases of confined placental mosaicism (CPM). The finding in placental DNA of three different alleles at polymorphic loci of chromosomes 13, 16, and 20 demonstrated the trisomic status of the zygote in three cases. On the basis of these results, we believe that systematic DNA polymorphism analysis could give useful additional information to improve knowledge on aneuploidy correction in human reproduction.

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Citations

Jul 14, 2011·Regenerative Medicine·Juan-Carlos Biancotti, Nissim Benvenisty
Jan 1, 2014·Journal of Clinical Medicine·Francesca Romana Grati
Oct 3, 2008·Fertility and Sterility·Shiri Barbash-HazanDalit Ben-Yosef
Mar 25, 2015·Journal of Applied Genetics·Miroslav HornakJiri Rubes
Aug 30, 2000·Lancet·A E Semprini, G Simoni
Jul 10, 2012·Biochimica Et Biophysica Acta·Eleni MantikouSebastiaan Mastenbroek
May 18, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Anne Mardy, Ronald J Wapner
Sep 5, 2002·American Journal of Medical Genetics·Dieter Kotzot
Mar 25, 2006·Prenatal Diagnosis·Katherine NeiswangerUrvashi Surti
Jan 1, 2020·Prenatal Diagnosis·Eva MelerAntoni Borrell

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