Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
Yonsei Medical Journal
;
: 500-502, 2008.
Artigo
em Inglês
| WPRIM
| ID: wpr-79500
ABSTRACT
We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estenose da Valva Pulmonar
/
Cromossomos Humanos Par 18
/
Bandeamento Cromossômico
/
Deleção Cromossômica
/
Permeabilidade do Canal Arterial
/
Cariotipagem
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2008
Tipo de documento:
Artigo
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