%0 Journal Article
%T 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
%A Artigal¨¢s
%A Osvaldo
%A Paskulin
%A Giorgio
%A Riegel
%A Mariluce
%A Burin
%A Maira
%A Saraiva-Pereira
%A Maria Luiza
%A Maluf
%A Sharbel
%A Kiss
%A Andrea
%A Schwartz
%A Ida Vanessa D.
%J Genetics and Molecular Biology
%D 2012
%I Sociedade Brasileira de Gen¨¦tica
%R 10.1590/S1415-47572012000300007
%X 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.
%K 22q13 deletion
%K apparently balanced translocation
%K arsa gene
%K arylsulfatase a pseudodeficiency
%K metachromatic leukodystrophy.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S1415-47572012000300007&lng=en&nrm=iso&tlng=en