Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features

Detalhes bibliográficos
Autor(a) principal: Ferreira,A.P.S.
Data de Publicação: 1996
Outros Autores: Mazzucatto,L.F., Ramos,E.S., Pina-Neto,J.M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Brazilian Journal of Genetics
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400023
Resumo: A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.
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spelling Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic featuresTrisomy 13 mosaicismskin fibroblastspsychomotor retardationpigmentary dysplasiadysmorphic featuresA Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.Sociedade Brasileira de Genética1996-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400023Brazilian Journal of Genetics v.19 n.4 1996reponame:Brazilian Journal of Geneticsinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S0100-84551996000400023info:eu-repo/semantics/openAccessFerreira,A.P.S.Mazzucatto,L.F.Ramos,E.S.Pina-Neto,J.M.eng2006-10-26T00:00:00Zoai:scielo:S0100-84551996000400023Revistahttps://www.gmb.org.br/brazilian-journal-of-geneticsONGhttps://old.scielo.br/oai/scielo-oai.phpsede@sgb.org.br || sede@sgb.org.br0100-84550100-8455opendoar:2006-10-26T00:00Brazilian Journal of Genetics - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
title Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
spellingShingle Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
Ferreira,A.P.S.
Trisomy 13 mosaicism
skin fibroblasts
psychomotor retardation
pigmentary dysplasia
dysmorphic features
title_short Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
title_full Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
title_fullStr Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
title_full_unstemmed Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
title_sort Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
author Ferreira,A.P.S.
author_facet Ferreira,A.P.S.
Mazzucatto,L.F.
Ramos,E.S.
Pina-Neto,J.M.
author_role author
author2 Mazzucatto,L.F.
Ramos,E.S.
Pina-Neto,J.M.
author2_role author
author
author
dc.contributor.author.fl_str_mv Ferreira,A.P.S.
Mazzucatto,L.F.
Ramos,E.S.
Pina-Neto,J.M.
dc.subject.por.fl_str_mv Trisomy 13 mosaicism
skin fibroblasts
psychomotor retardation
pigmentary dysplasia
dysmorphic features
topic Trisomy 13 mosaicism
skin fibroblasts
psychomotor retardation
pigmentary dysplasia
dysmorphic features
description A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.
publishDate 1996
dc.date.none.fl_str_mv 1996-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400023
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400023
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0100-84551996000400023
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 Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Brazilian Journal of Genetics v.19 n.4 1996
reponame:Brazilian Journal of Genetics
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Brazilian Journal of Genetics
collection Brazilian Journal of Genetics
repository.name.fl_str_mv Brazilian Journal of Genetics - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv sede@sgb.org.br || sede@sgb.org.br
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