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 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.