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.

Congenital diaphragmatic hernia, Isochromosome, Tetrasomy 9p
dx.doi.org/10.1016/j.jpedsurg.2005.06.032, hdl.handle.net/1765/68522
Journal of Pediatric Surgery
Department 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