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.

Abstract:

: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.

journal_name

Genet Mol Biol

authors

Artigalás O,Paskulin G,Riegel M,Burin M,Saraiva-Pereira ML,Maluf S,Kiss A,Schwartz IV

doi

10.1590/S1415-47572012000300007

subject

Has Abstract

pub_date

2012-04-01 00:00:00

pages

424-7

issue

2

eissn

1415-4757

issn

1678-4685

pii

S1415-47572012000300007

journal_volume

35

pub_type

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