A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22) : an ilustrative case in the investigation of patients with low ARSA activity
dc.contributor.author | Artigalas, Osvaldo Alfonso Pinto | pt_BR |
dc.contributor.author | Paskulin, Giorgio Adriano | pt_BR |
dc.contributor.author | Riegel, Mariluce | pt_BR |
dc.contributor.author | Burin, Maira Graeff | pt_BR |
dc.contributor.author | Pereira, Maria Luiza Saraiva | pt_BR |
dc.contributor.author | Maluf, Sharbel Weidner | pt_BR |
dc.contributor.author | Kiss, Andréia | pt_BR |
dc.contributor.author | Schwartz, Ida Vanessa Doederlein | pt_BR |
dc.date.accessioned | 2014-02-26T01:51:32Z | pt_BR |
dc.date.issued | 2012 | pt_BR |
dc.identifier.issn | 1415-4757 | pt_BR |
dc.identifier.uri | http://hdl.handle.net/10183/87730 | pt_BR |
dc.description.abstract | 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. | en |
dc.format.mimetype | application/pdf | pt_BR |
dc.language.iso | eng | pt_BR |
dc.relation.ispartof | Genetics and molecular biology. Ribeirão Preto. Vol. 35, n. 2 (jun. 2012), p. 424-427 | pt_BR |
dc.rights | Open Access | en |
dc.subject | 22q13 deletion | en |
dc.subject | Leucodistrofia metacromática | pt_BR |
dc.subject | apparently balanced translocation | en |
dc.subject | ARSA gene | en |
dc.subject | arylsulfatase A pseudodeficiency | en |
dc.subject | metachromatic leukodystrophy | en |
dc.title | A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22) : an ilustrative case in the investigation of patients with low ARSA activity | pt_BR |
dc.type | Artigo de periódico | pt_BR |
dc.identifier.nrb | 000862492 | pt_BR |
dc.type.origin | Nacional | pt_BR |
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