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(a) principal: Artigalas, Osvaldo Alfonso Pinto
• Data de Publicação: 2012
• Outros Autores: Paskulin, Giorgio Adriano, Riegel, Mariluce, Burin, Maira Graeff, Pereira, Maria Luiza Saraiva, Maluf, Sharbel Weidner, Kiss, Andréia, Schwartz, Ida Vanessa Doederlein
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/87730
• topic: Leucodistrofia metacromática; 22q13 deletion; apparently balanced translocation; ARSA gene; arylsulfatase A pseudodeficiency; metachromatic leukodystrophy

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.