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.

Bibliographic Details

Main Authors:	Artigalás,Osvaldo, Paskulin,Giorgio, Riegel,Mariluce, Burin,Maira, Saraiva-Pereira,Maria Luiza, Maluf,Sharbel, Kiss,Andrea, Schwartz,Ida Vanessa D.
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Genética 2012
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007
Tags:	Add Tag No Tags, Be the first to tag this record!