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. 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. (c) 2005 Elsevier Inc. All rights reserved.