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.

Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism / S.M. Sirchia, I. Garagiola, G. Colucci, S. Guerneri, F. Lalatta, M.G. Grimoldi, G. Simoni. - In: PRENATAL DIAGNOSIS. - ISSN 0197-3851. - 18:3(1998 Mar), pp. 201-206.

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

S.M. Sirchia
Primo
;
I. Garagiola
Secondo
;
M.G. Grimoldi
Penultimo
;
G. Simoni
Ultimo
1998-03

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.
Aneuploidy correction; Confined placental mosaicism; DNA polymorphisms
Settore MED/03 - Genetica Medica
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/204748
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