A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity

Detalhes bibliográficos
Autor(a) principal: Artigalás,Osvaldo
Data de Publicação: 2012
Outros Autores: Paskulin,Giorgio, Riegel,Mariluce, Burin,Maira, Saraiva-Pereira,Maria Luiza, Maluf,Sharbel, Kiss,Andrea, Schwartz,Ida Vanessa D.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007
Resumo: A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features.
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spelling A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity22q13 deletionapparently balanced translocationARSA genearylsulfatase A pseudodeficiencymetachromatic leukodystrophyA 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features.Sociedade Brasileira de Genética2012-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007Genetics and Molecular Biology v.35 n.2 2012reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572012000300007info:eu-repo/semantics/openAccessArtigalás,OsvaldoPaskulin,GiorgioRiegel,MariluceBurin,MairaSaraiva-Pereira,Maria LuizaMaluf,SharbelKiss,AndreaSchwartz,Ida Vanessa D.eng2012-06-19T00:00:00Zoai:scielo:S1415-47572012000300007Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2012-06-19T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
title A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
spellingShingle A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
Artigalás,Osvaldo
22q13 deletion
apparently balanced translocation
ARSA gene
arylsulfatase A pseudodeficiency
metachromatic leukodystrophy
title_short A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
title_full A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
title_fullStr A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
title_full_unstemmed A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
title_sort A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
author Artigalás,Osvaldo
author_facet Artigalás,Osvaldo
Paskulin,Giorgio
Riegel,Mariluce
Burin,Maira
Saraiva-Pereira,Maria Luiza
Maluf,Sharbel
Kiss,Andrea
Schwartz,Ida Vanessa D.
author_role author
author2 Paskulin,Giorgio
Riegel,Mariluce
Burin,Maira
Saraiva-Pereira,Maria Luiza
Maluf,Sharbel
Kiss,Andrea
Schwartz,Ida Vanessa D.
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Artigalás,Osvaldo
Paskulin,Giorgio
Riegel,Mariluce
Burin,Maira
Saraiva-Pereira,Maria Luiza
Maluf,Sharbel
Kiss,Andrea
Schwartz,Ida Vanessa D.
dc.subject.por.fl_str_mv 22q13 deletion
apparently balanced translocation
ARSA gene
arylsulfatase A pseudodeficiency
metachromatic leukodystrophy
topic 22q13 deletion
apparently balanced translocation
ARSA gene
arylsulfatase A pseudodeficiency
metachromatic leukodystrophy
description A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features.
publishDate 2012
dc.date.none.fl_str_mv 2012-01-01
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=S1415-47572012000300007
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572012000300007
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 Genetics and Molecular Biology v.35 n.2 2012
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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