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 pre...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
2012-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007 |