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dc.creatorHenriques-Coelho, T
dc.creatorOlivia-Teles, N
dc.creatorFonseca-Silva, ML
dc.creatorTibboel, D
dc.creatorGuimarães, H
dc.creatorCorreia-Pinto, J
dc.description.abstractTetrasomy 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.
dc.subjectCiências médicas e da saúde
dc.subjectMedical and Health sciences
dc.titleCongenital diaphragmatic hernia in a patient with tetrasomy 9p
dc.typeArtigo em Revista Científica Internacional
dc.contributor.uportoFaculdade de Medicina
dc.subject.fosCiências médicas e da saúde
dc.subject.fosMedical and Health sciences
Appears in Collections:FMUP - Artigo em Revista Científica Internacional

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