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 nonm...

ver descrição completa

Detalhes bibliográficos
Autor principal: Henriques-Coelho, Tiago (author)
Outros Autores: Oliva-Teles, Natália (author), Fonseca-Silva, M. Luz (author), Tibboel, Dick (author), Guimarães, Hercília (author), Correia-Pinto, Jorge (author)
Formato: article
Idioma:eng
Publicado em: 2005
Assuntos:
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
Texto completo:http://hdl.handle.net/1822/67899
País:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/67899

Texto Completo

http://hdl.handle.net/1822/67899

Registos relacionados