Mosaic partial tetrasomy 10: a rare prenatal diagnosis

Detalhes bibliográficos
Autor(a) principal: Sarabando,Rita
Data de Publicação: 2022
Outros Autores: Cunha,Diogo, Gonçalves-Rocha,Miguel, Cadilhe,Alexandra
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302022000200155
Resumo: Abstract Mosaic partial tetrasomy 10 is a rare chromosomal disorder. It has been associated with several fetal malformations and poor outcome. We report a case with prenatal diagnosis at 22 weeks of gestational age, whose second-trimester ultrasound scan showed several malformations. Fetal karyotype revealed a partial mosaic tetrasomy of chromosome 10 ([47,XY,+idic(10)(q11.2)[11]/46,XY[27]) classified as pathogenic. Medical termination of pregnancy was performed and fetal autopsy confirmed the ultrasound findings. There is only one case of tetrasomy 10p reported in the literature, with similar features and fetal malformations, and by sharing this rare case we hope to help in similar clinical scenarios.
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spelling Mosaic partial tetrasomy 10: a rare prenatal diagnosisAbnormalitiesPrenatal diagnosisGenetic CounsellingAbstract Mosaic partial tetrasomy 10 is a rare chromosomal disorder. It has been associated with several fetal malformations and poor outcome. We report a case with prenatal diagnosis at 22 weeks of gestational age, whose second-trimester ultrasound scan showed several malformations. Fetal karyotype revealed a partial mosaic tetrasomy of chromosome 10 ([47,XY,+idic(10)(q11.2)[11]/46,XY[27]) classified as pathogenic. Medical termination of pregnancy was performed and fetal autopsy confirmed the ultrasound findings. There is only one case of tetrasomy 10p reported in the literature, with similar features and fetal malformations, and by sharing this rare case we hope to help in similar clinical scenarios.Euromédice, Edições Médicas Lda.2022-06-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302022000200155Acta Obstétrica e Ginecológica Portuguesa v.16 n.2 2022reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302022000200155Sarabando,RitaCunha,DiogoGonçalves-Rocha,MiguelCadilhe,Alexandrainfo:eu-repo/semantics/openAccess2024-02-06T17:21:56Zoai:scielo:S1646-58302022000200155Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:28:47.313251Repositório 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 Mosaic partial tetrasomy 10: a rare prenatal diagnosis
title Mosaic partial tetrasomy 10: a rare prenatal diagnosis
spellingShingle Mosaic partial tetrasomy 10: a rare prenatal diagnosis
Sarabando,Rita
Abnormalities
Prenatal diagnosis
Genetic Counselling
title_short Mosaic partial tetrasomy 10: a rare prenatal diagnosis
title_full Mosaic partial tetrasomy 10: a rare prenatal diagnosis
title_fullStr Mosaic partial tetrasomy 10: a rare prenatal diagnosis
title_full_unstemmed Mosaic partial tetrasomy 10: a rare prenatal diagnosis
title_sort Mosaic partial tetrasomy 10: a rare prenatal diagnosis
author Sarabando,Rita
author_facet Sarabando,Rita
Cunha,Diogo
Gonçalves-Rocha,Miguel
Cadilhe,Alexandra
author_role author
author2 Cunha,Diogo
Gonçalves-Rocha,Miguel
Cadilhe,Alexandra
author2_role author
author
author
dc.contributor.author.fl_str_mv Sarabando,Rita
Cunha,Diogo
Gonçalves-Rocha,Miguel
Cadilhe,Alexandra
dc.subject.por.fl_str_mv Abnormalities
Prenatal diagnosis
Genetic Counselling
topic Abnormalities
Prenatal diagnosis
Genetic Counselling
description Abstract Mosaic partial tetrasomy 10 is a rare chromosomal disorder. It has been associated with several fetal malformations and poor outcome. We report a case with prenatal diagnosis at 22 weeks of gestational age, whose second-trimester ultrasound scan showed several malformations. Fetal karyotype revealed a partial mosaic tetrasomy of chromosome 10 ([47,XY,+idic(10)(q11.2)[11]/46,XY[27]) classified as pathogenic. Medical termination of pregnancy was performed and fetal autopsy confirmed the ultrasound findings. There is only one case of tetrasomy 10p reported in the literature, with similar features and fetal malformations, and by sharing this rare case we hope to help in similar clinical scenarios.
publishDate 2022
dc.date.none.fl_str_mv 2022-06-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302022000200155
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S1646-58302022000200155
dc.language.iso.fl_str_mv eng
language eng
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dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Euromédice, Edições Médicas Lda.
publisher.none.fl_str_mv Euromédice, Edições Médicas Lda.
dc.source.none.fl_str_mv Acta Obstétrica e Ginecológica Portuguesa v.16 n.2 2022
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
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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
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