Trisomy 15 mosaicism: Challenges in prenatal diagnosis

Detalhes bibliográficos
Autor(a) principal: Silva, Marisa
Data de Publicação: 2015
Outros Autores: Alves, Cristina, Pedro, Sónia, Marques, Bárbara, Ferreira, Cristina, Furtado, José, Martins, Ana Teresa, Fernandes, Rosário, Correia, Joaquim, Correia, Hildeberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/3355
Resumo: Research Letter
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spelling Trisomy 15 mosaicism: Challenges in prenatal diagnosisPrenatal DiagnosisTrisomy 15MosaicismSNP ArrayDoenças GenéticasResearch LetterTrisomy 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. (...)WileyRepositório Científico do Instituto Nacional de SaúdeSilva, MarisaAlves, CristinaPedro, SóniaMarques, BárbaraFerreira, CristinaFurtado, JoséMartins, Ana TeresaFernandes, RosárioCorreia, JoaquimCorreia, Hildeberto2016-11-01T01:30:08Z2015-112015-11-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/3355engAm J Med Genet A. 2015 Nov;167A(11):2847-50. doi: 10.1002/ajmg.a.37229. Epub 2015 Jun 301552-482510.1002/ajmg.a.37229info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:39:45Zoai:repositorio.insa.pt:10400.18/3355Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:38:16.159071Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Trisomy 15 mosaicism: Challenges in prenatal diagnosis
title Trisomy 15 mosaicism: Challenges in prenatal diagnosis
spellingShingle Trisomy 15 mosaicism: Challenges in prenatal diagnosis
Silva, Marisa
Prenatal Diagnosis
Trisomy 15
Mosaicism
SNP Array
Doenças Genéticas
title_short Trisomy 15 mosaicism: Challenges in prenatal diagnosis
title_full Trisomy 15 mosaicism: Challenges in prenatal diagnosis
title_fullStr Trisomy 15 mosaicism: Challenges in prenatal diagnosis
title_full_unstemmed Trisomy 15 mosaicism: Challenges in prenatal diagnosis
title_sort Trisomy 15 mosaicism: Challenges in prenatal diagnosis
author Silva, Marisa
author_facet Silva, Marisa
Alves, Cristina
Pedro, Sónia
Marques, Bárbara
Ferreira, Cristina
Furtado, José
Martins, Ana Teresa
Fernandes, Rosário
Correia, Joaquim
Correia, Hildeberto
author_role author
author2 Alves, Cristina
Pedro, Sónia
Marques, Bárbara
Ferreira, Cristina
Furtado, José
Martins, Ana Teresa
Fernandes, Rosário
Correia, Joaquim
Correia, Hildeberto
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Silva, Marisa
Alves, Cristina
Pedro, Sónia
Marques, Bárbara
Ferreira, Cristina
Furtado, José
Martins, Ana Teresa
Fernandes, Rosário
Correia, Joaquim
Correia, Hildeberto
dc.subject.por.fl_str_mv Prenatal Diagnosis
Trisomy 15
Mosaicism
SNP Array
Doenças Genéticas
topic Prenatal Diagnosis
Trisomy 15
Mosaicism
SNP Array
Doenças Genéticas
description Research Letter
publishDate 2015
dc.date.none.fl_str_mv 2015-11
2015-11-01T00:00:00Z
2016-11-01T01:30:08Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/3355
url http://hdl.handle.net/10400.18/3355
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Am J Med Genet A. 2015 Nov;167A(11):2847-50. doi: 10.1002/ajmg.a.37229. Epub 2015 Jun 30
1552-4825
10.1002/ajmg.a.37229
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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