| Registro completo |
| Provedor de dados: |
54
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| País: |
Brazil
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| Título: |
Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
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| Autores: |
Ferreira,A.P.S.
Mazzucatto,L.F.
Ramos,E.S.
Pina-Neto,J.M.
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| Data: |
1996-01-01
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| Ano: |
1996
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| Palavras-chave: |
Trisomy 13 mosaicism
Skin fibroblasts
Psychomotor retardation
Pigmentary dysplasia
Dysmorphic features
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| Resumo: |
A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.
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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=S0100-84551996000400023
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S0100-84551996000400023
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| Formato: |
text/html
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| Fonte: |
Brazilian Journal of Genetics v.19 n.4 1996
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| Direitos: |
info:eu-repo/semantics/openAccess
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