Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
Yonsei Medical Journal
; : 500-502, 2008.
Article
Dans En
| WPRIM
| ID: wpr-79500
Responsable en Bibliothèque :
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Sténose de la valve pulmonaire
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Chromosomes humains de la paire 18
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Zébrage chromosomique
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Délétion de segment de chromosome
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Persistance du canal artériel
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Caryotypage
Limites du sujet:
Child, preschool
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Humans
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Male
langue:
En
Texte intégral:
Yonsei Medical Journal
Année:
2008
Type:
Article