Please use this identifier to cite or link to this item:
https://hdl.handle.net/10216/67265
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. Cylogenetic 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,I 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 |
URI: | https://hdl.handle.net/10216/67265 |
Document Type: | Artigo em Revista Científica Internacional |
Rights: | openAccess |
License: | https://creativecommons.org/licenses/by-nc/4.0/ |
Appears in Collections: | FMUP - Artigo em Revista Científica Internacional |
This item is licensed under a Creative Commons License