1.
Yonsei Medical Journal
; : 500-502, 2008.
Article
Dans Anglais
| WPRIM
| ID: wpr-79500
Résumé
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.
Sujets)
Enfant d'âge préscolaire , Humains , Mâle , Zébrage chromosomique , Délétion de segment de chromosome , Chromosomes humains de la paire 18/génétique , Persistance du canal artériel/génétique , Caryotypage , Sténose de la valve pulmonaire/génétique
2.
Indian Heart J
; 1982 Jan-Feb; 34(1): 54-6
Article
Dans Anglais
| IMSEAR
| ID: sea-5312
3.
Ceylon Med J
; 1981 Jun; 26(2): 67-70
Article
Dans Anglais
| IMSEAR
| ID: sea-48933