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Trisomy 15 mosaicism: Challenges in prenatal diagnosis

2015-11Journal article Restricted access
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dc.contributor.authorSilva, Marisa
dc.contributor.authorAlves, Cristina
dc.contributor.authorPedro, Sónia
dc.contributor.authorMarques, Bárbara
dc.contributor.authorFerreira, Cristina
dc.contributor.authorFurtado, José
dc.contributor.authorMartins, Ana Teresa
dc.contributor.authorFernandes, Rosário
dc.contributor.authorCorreia, Joaquim
dc.contributor.authorCorreia, Hildeberto
dc.date.accessioned2016-02-17T11:04:05Z
dc.date.available2016-11-01T01:30:08Z
dc.date.issued2015-11
dc.descriptionResearch Letterpt_PT
dc.description.abstractTrisomy 15 mosaicism (mosT15) has been described in fetuses and live-born infants [Christian et al., 1996; Redaelli et al., 2005], with most cases involving confined placental mosaicism (CPM) and meiotic non-disjunction (ND) [EUCROMIC, 1999]. Poor pregnancy outcome prognosis is associated with the presence of aneuploid cells, and there is also a risk of uniparental disomy 15 (UPD15) due to correction of the trisomic state to a disomic constitution. Trisomy or monosomy rescue, gamete complementation and postfertilization error are the main mechanisms leading to UPD and may cause heterodisomy (heteroUPD), isodisomy (isoUPD) or both, depending on the number of meiotic recombinations. The result of maternal (matUPD) and paternal (patUPD) UPD15 is Prader–Willi and Angelman syndrome, respectively, due to imprinting of chromosome region 15q11–15q13. UPD detection can only be achieved using molecular methodologies, such as methylation-specific assays (MSA) [Kotzot, 2008] and, more recently, genome-wide single nucleotide polymorphism (SNP) arrays [Conlin et al., 2010; Schroeder et al., 2013]. MSA allow for methylation pattern analysis of the chromosome regions of interest and SNP-arrays may provide information about copy number as well as UPD, in cases of isoUPD or isodisomy secondary to recombination. HeteroUPD may also be diagnosed by SNParrays if parental and proband DNAs are analyzed in a trio [Conlin et al., 2010; Schroeder et al., 2013]. However, not all molecular methods are equally informative and when a mosaicism is present, especially in a prenatal setting, parent-of-origin analysis as well as karyotype–phenotype correlations become quite challenging. Here we report on a fetus with a CVS diagnosed mosT15 with different degrees of mosaicism found in different tissues and briefly discuss the challenges of prenatal diagnosis of UPD15. (...)pt_PT
dc.identifier.citationAm J Med Genet A. 2015 Nov;167A(11):2847-50. doi: 10.1002/ajmg.a.37229. Epub 2015 Jun 30pt_PT
dc.identifier.doi10.1002/ajmg.a.37229pt_PT
dc.identifier.issn1552-4825
dc.identifier.urihttp://hdl.handle.net/10400.18/3355
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37229/epdfpt_PT
dc.subjectPrenatal Diagnosispt_PT
dc.subjectTrisomy 15pt_PT
dc.subjectMosaicismpt_PT
dc.subjectSNP Arraypt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleTrisomy 15 mosaicism: Challenges in prenatal diagnosispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage2847pt_PT
oaire.citation.startPage2847pt_PT
oaire.citation.titleAmerican Jornal of Medical Geneticspt_PT
oaire.citation.volume167(11)pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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