Detalhes bibliográficos
| Resumo: | Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia. |
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| Autores principais: | Henriques-Coelho, Tiago |
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| Outros Autores: | Oliva-Teles, Natália; Fonseca-Silva, M. Luz; Tibboel, Dick; Guimarães, Hercília; Correia-Pinto, Jorge |
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| Assunto: | Adult Chromosome Disorders Female Hernia, Diaphragmatic Humans Karyotyping Chromosomes, Human, Pair 9 Hernias, Diaphragmatic, Congenital Tetrasomy 9p Isochromosome Congenital diaphragmatic hernia |
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| Ano: | 2005 |
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| País: | Portugal |
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| Tipo de documento: | artigo |
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| Tipo de acesso: | acesso aberto |
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| Instituição associada: | Universidade do Minho |
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| Idioma: | inglês |
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| Origem: | RepositóriUM - Universidade do Minho |
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