title: Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism.
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.
authors.affiliation: Fondazione Luigi Villa Centro Studi di Patologia Molecolare Applicata alla Clinica, Milano, Italy. genetica@cube.it
authors.forename: S M
authors.initials: SM
authors.lastname: Sirchia
authors.forename: I
authors.initials: I
authors.lastname: Garagiola
authors.forename: G
authors.initials: G
authors.lastname: Colucci
authors.forename: S
authors.initials: S
authors.lastname: Guerneri
authors.forename: F
authors.initials: F
authors.lastname: Lalatta
authors.forename: M G
authors.initials: MG
authors.lastname: Grimoldi
authors.forename: G
authors.initials: G
authors.lastname: Simoni
mesh_terms: D000483:Alleles; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis* / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats; D009030:Mosaicism / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D011247:Pregnancy; D011256:Pregnancy Outcome; D014314:Trisomy / Q000235:genetics* / Q000473:pathology; D015053:Zygote
chemical_list: D005819:Genetic Markers; D004247:DNA