Congenital diaphragmatic hernia in a patient with tetrasomy 9p
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.
|Keywords||Congenital diaphragmatic hernia, Isochromosome, Tetrasomy 9p|
|Persistent URL||dx.doi.org/10.1016/j.jpedsurg.2005.06.032, hdl.handle.net/1765/68522|
|Journal||Journal of Pediatric Surgery|
Henriques-Coelho, T, Oliva-Teles, N, Fonseca-Silva, M.L, Tibboel, D, Guimarães, H, & Correia-Pinto, J. (2005). Congenital diaphragmatic hernia in a patient with tetrasomy 9p. Journal of Pediatric Surgery, 40(10). doi:10.1016/j.jpedsurg.2005.06.032