1.
Yonsei Medical Journal
;
: 500-502, 2008.
Artigo
em Inglês
| WPRIM
| ID: wpr-79500
RESUMO
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.
Assuntos
Pré-Escolar , Humanos , Masculino , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Permeabilidade do Canal Arterial/genética , Cariotipagem , Estenose da Valva Pulmonar/genética
2.
Indian Heart J
;
1982 Jan-Feb; 34(1): 54-6
Artigo
em Inglês
| IMSEAR
| ID: sea-5312
3.
Ceylon Med J
;
1981 Jun; 26(2): 67-70
Artigo
em Inglês
| IMSEAR
| ID: sea-48933