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 Bioljournal_title
Genetics and molecular biologyauthors
Artigalás O,Paskulin G,Riegel M,Burin M,Saraiva-Pereira ML,Maluf S,Kiss A,Schwartz IVdoi
10.1590/S1415-47572012000300007subject
Has Abstractpub_date
2012-04-01 00:00:00pages
424-7issue
2eissn
1415-4757issn
1678-4685pii
S1415-47572012000300007journal_volume
35pub_type
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