Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism
1998; Wiley; Volume: 18; Issue: 3 Linguagem: Inglês
10.1002/(sici)1097-0223(199803)18
ISSN1097-0223
AutoresSilvia Maria Sirchia, Isabella Garagiola, Giuseppe Colucci, Silvana Guerneri, Faustina Lalatta, Maria Grazia Grimoldi, Giuseppe Simoni,
Tópico(s)Genomic variations and chromosomal abnormalities
ResumoUniparental 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. © 1998 John Wiley & Sons, Ltd.
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