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

Genetics and Molecular Biology

Osvaldo Artigalás²  Giorgio Paskulin¹  Mariluce Riegel¹  Maira Burin¹  Maria Luiza Saraiva-pereira¹  Sharbel Maluf¹  Andrea Kiss¹  Ida Vanessa D. Schwartz² 

[1] ,Universidade Federal do Rio Grande do Sul Departamento de Genética Programa de Pós-Graduação em Genética e Biologia MolecularPorto Alegre RS ,Brazil

关键词: 22q13 deletion;    apparently balanced translocation;    ARSA gene;    arylsulfatase A pseudodeficiency;    metachromatic leukodystrophy;   

DOI  :  10.1590/S1415-47572012000300007

来源: SciELO

【 摘 要 】

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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