Clinical utility of skin karyotype
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , |
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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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 |
_version_ |
1752122296304140288 |