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Prenatal diagnosis of mosaic ring chromosome 16 - a rare event with uncertain prognosis

2018-06-16Conference object Open access
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dc.contributor.authorBrito, F.
dc.contributor.authorM. Silv, M.
dc.contributor.authorAlves, C.
dc.contributor.authorFerreira, C.
dc.contributor.authorSerafim, S.
dc.contributor.authorSimão, L.
dc.contributor.authorMarques, B.
dc.contributor.authorPedro, S.
dc.contributor.authorTarelho, A.
dc.contributor.authorFurtado, J.
dc.contributor.authorLopes, P.
dc.contributor.authorSilva, N.
dc.contributor.authorViegas, M.
dc.contributor.authorFernandes, A.
dc.contributor.authorTeixeira, F.
dc.contributor.authorGomes, S.
dc.contributor.authorCorreia, H.
dc.date.accessioned2019-02-19T16:57:45Z
dc.date.available2019-02-19T16:57:45Z
dc.date.issued2018-06-16
dc.description.abstractRing chromosomes are rare cytogenetic findings (prenatal frequency ~ 0.0075%) often associated with an abnormal phenotype, depending of the chromosomal origin, genetic content and the presence of a mosaic. Supernumerary ring chromosome 16 [r(16)] is rarely observed and mosaicism makes the genotype/phenotype correlation difficult. We report a de novo mosaic r(16) detected after prenatal diagnosis in a woman referred for advanced maternal age. Multiplex ligation-dependent probe amplification (MLPA) for aneuploidy testing of chromosomes 13, 18, 21 and X was normal. Karyotype was 47,XX,+r[10]/46,XX[15]. Chromosomal microarray analysis (CMA) on DNA obtained from long-term cultured amniocytes did not detect any alterations. MLPA with a pericentromeric probe kit on an uncultured sample showed a chromosome 16 gain, encompassing 16p11.2 and 16q11.2 regions, including TGFB1I1, AHSP, VPS35 and ORC6 genes, leading to partial characterization of the r(16). Although no phenotype has been correlated with overexpression of these genes, the 16p11.2 region is associated with neurodevelopmental disorders. Nevertheless individuals with microduplication of 16p11.2 and normal development have been described. The lack of a precise definition of genetic content of the r(16) and its mosaic form leads to uncertain prognosis of clinical outcome.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5902
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectAnomalias cromossómicaspt_PT
dc.subjectRing 16pt_PT
dc.subjectDiagnostico pré-natalpt_PT
dc.subjectPrenatal Diagnosispt_PT
dc.subjectRing Chromosome 16pt_PT
dc.titlePrenatal diagnosis of mosaic ring chromosome 16 - a rare event with uncertain prognosispt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceMilão, Itáliapt_PT
oaire.citation.titleESHG Conference 2018 - European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics, 16-19 june 2018pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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