Clinical utility of skin karyotype

Detalhes bibliográficos
Autor(a) principal: Dorfman,Luiza E.
Data de Publicação: 2015
Outros Autores: Silva,Agnes F. R. P., Paskulin,Giorgio A., Rosa,Rafael F. M., Zen,Paulo R. G.
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442015000400229
Resumo: ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.
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spelling Clinical utility of skin karyotypekaryotypefibroblastshuman chromosomes pair 13chromosome aberrationsgenetic counselingABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.Sociedade Brasileira de Patologia Clínica2015-08-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442015000400229Jornal Brasileiro de Patologia e Medicina Laboratorial v.51 n.4 2015reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)instname:Sociedade Brasileira de Patologia (SBP)instacron:SBP10.5935/1676-2444.20150038info:eu-repo/semantics/openAccessDorfman,Luiza E.Silva,Agnes F. R. P.Paskulin,Giorgio A.Rosa,Rafael F. M.Zen,Paulo R. G.eng2015-09-11T00:00:00Zoai:scielo:S1676-24442015000400229Revistahttp://www.scielo.br/jbpmlhttps://old.scielo.br/oai/scielo-oai.php||jbpml@sbpc.org.br1678-47741676-2444opendoar:2015-09-11T00:00Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)false
dc.title.none.fl_str_mv Clinical utility of skin karyotype
title Clinical utility of skin karyotype
spellingShingle Clinical utility of skin karyotype
Dorfman,Luiza E.
karyotype
fibroblasts
human chromosomes pair 13
chromosome aberrations
genetic counseling
title_short Clinical utility of skin karyotype
title_full Clinical utility of skin karyotype
title_fullStr Clinical utility of skin karyotype
title_full_unstemmed Clinical utility of skin karyotype
title_sort Clinical utility of skin karyotype
author Dorfman,Luiza E.
author_facet Dorfman,Luiza E.
Silva,Agnes F. R. P.
Paskulin,Giorgio A.
Rosa,Rafael F. M.
Zen,Paulo R. G.
author_role author
author2 Silva,Agnes F. R. P.
Paskulin,Giorgio A.
Rosa,Rafael F. M.
Zen,Paulo R. G.
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Dorfman,Luiza E.
Silva,Agnes F. R. P.
Paskulin,Giorgio A.
Rosa,Rafael F. M.
Zen,Paulo R. G.
dc.subject.por.fl_str_mv karyotype
fibroblasts
human chromosomes pair 13
chromosome aberrations
genetic counseling
topic karyotype
fibroblasts
human chromosomes pair 13
chromosome aberrations
genetic counseling
description ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.
publishDate 2015
dc.date.none.fl_str_mv 2015-08-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442015000400229
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442015000400229
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/1676-2444.20150038
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
Sociedade Brasileira de Patologia Clínica
publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
dc.source.none.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial v.51 n.4 2015
reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
instname:Sociedade Brasileira de Patologia (SBP)
instacron:SBP
instname_str Sociedade Brasileira de Patologia (SBP)
instacron_str SBP
institution SBP
reponame_str Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
collection Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
repository.name.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)
repository.mail.fl_str_mv ||jbpml@sbpc.org.br
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