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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

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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

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Título 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
Autor Artigalas, Osvaldo Alfonso Pinto
Paskulin, Giorgio Adriano
Riegel, Mariluce
Burin, Maira Graeff
Pereira, Maria Luiza Saraiva
Maluf, Sharbel Weidner
Kiss, Andréia
Schwartz, Ida Vanessa Doederlein
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.
Contido em Genetics and molecular biology. Ribeirao Preto. Vol. 35, n. 2 (jun. 2012), p. 424-427
Assunto Arilsulfatase A
Leucodistrofia metacromática
[en] 22q13 deletion
[en] apparently balanced translocation
[en] ARSA gene
[en] arylsulfatase A pseudodeficiency
[en] metachromatic leukodystrophy
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/87730
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