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. 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.
Henriques-Coelho
Tiago
T
Division of Pediatric Surgery, Hospital de S. João, 4202-451 Porto, Portugal.
Oliva-Teles
Natália
N
Fonseca-Silva
M Luz
ML
Tibboel
Dick
D
Guimarães
Hercília
H
Correia-Pinto
Jorge
J
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