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https://hdl.handle.net/1822/67899
Título: | Congenital diaphragmatic hernia in a patient with tetrasomy 9p |
Autor(es): | Henriques-Coelho, Tiago Oliva-Teles, Natália Fonseca-Silva, M. Luz Tibboel, Dick Guimarães, Hercília Correia-Pinto, Jorge |
Palavras-chave: | Adult Chromosome Disorders Female Hernia, Diaphragmatic Humans Karyotyping Chromosomes, Human, Pair 9 Hernias, Diaphragmatic, Congenital Tetrasomy 9p Isochromosome Congenital diaphragmatic hernia |
Data: | Out-2005 |
Editora: | Elsevier 1 |
Revista: | Journal of Pediatric Surgery |
Citação: | Henriques-Coelho, T., Oliva-Teles, N., Fonseca-Silva, M. L., Tibboel, D., et. al. (2005). Congenital diaphragmatic hernia in a patient with tetrasomy 9p. Journal of pediatric surgery, 40(10), e29-e31 |
Resumo(s): | 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. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/67899 |
DOI: | 10.1016/j.jpedsurg.2005.06.032 |
ISSN: | 0022-3468 |
Versão da editora: | https://www.sciencedirect.com/science/article/pii/S0022346805004975 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Henriques-coelho-2005-Congenital-diaphragmatic-hernia-in-.pdf | 97,03 kB | Adobe PDF | Ver/Abrir |