title: Congenital diaphragmatic hernia in a patient with tetrasomy 9p.
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. 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.
authors.affiliation: Division of Pediatric Surgery, Hospital de S. João, 4202-451 Porto, Portugal.
authors.forename: Tiago
authors.initials: T
authors.lastname: Henriques-Coelho
authors.forename: Natália
authors.initials: N
authors.lastname: Oliva-Teles
authors.forename: M Luz
authors.initials: ML
authors.lastname: Fonseca-Silva
authors.forename: Dick
authors.initials: D
authors.lastname: Tibboel
authors.forename: Hercília
authors.initials: H
authors.lastname: Guimarães
authors.forename: Jorge
authors.initials: J
authors.lastname: Correia-Pinto
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007621:Karyotyping