| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
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
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| Autores: |
Artigalás,Osvaldo
Paskulin,Giorgio
Riegel,Mariluce
Burin,Maira
Saraiva-Pereira,Maria Luiza
Maluf,Sharbel
Kiss,Andrea
Schwartz,Ida Vanessa D.
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| Data: |
2012-01-01
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| Ano: |
2012
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| Palavras-chave: |
22q13 deletion
Apparently balanced translocation
ARSA gene
Arylsulfatase A pseudodeficiency
Metachromatic leukodystrophy
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| Resumo: |
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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572012000300007
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.35 n.2 2012
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| Direitos: |
info:eu-repo/semantics/openAccess
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