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Author(s): Henriques-Coelho, T
Olivia-Teles, N
Fonseca-Silva, ML
Tibboel, D
Guimarães, H
Correia-Pinto, J
Title: Congenital diaphragmatic hernia in a patient with tetrasomy 9p
Issue Date: 2005
Abstract: 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.
Subject: Ciências médicas e da saúde
Medical and Health sciences
Scientific areas: Ciências médicas e da saúde
Medical and Health sciences
Document Type: Artigo em Revista Científica Internacional
Rights: openAccess
Appears in Collections:FMUP - Artigo em Revista Científica Internacional

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