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.

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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