Congenital diaphragmatic hernia in a patient with tetrasomy 9p

• Main Author: Henriques-Coelho, Tiago
• Publication Date: 2005
• Other Authors: Oliva-Teles, Natália, Fonseca-Silva, M. Luz, Tibboel, Dick, Guimarães, Hercília, Correia-Pinto, Jorge
• Format: Article
• Language: eng
• Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
• Download full: https://hdl.handle.net/1822/67899
• topic: Adult; Chromosome Disorders; Female; Hernia, Diaphragmatic; Humans; Karyotyping; Chromosomes, Human, Pair 9; Hernias, Diaphragmatic, Congenital; Tetrasomy 9p; Isochromosome; Congenital diaphragmatic hernia; Ciências Médicas::Medicina Clínica; Science & Technology

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.