Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
Yonsei Medical Journal
; : 500-502, 2008.
Article
in En
| WPRIM
| ID: wpr-79500
Responsible library:
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Pulmonary Valve Stenosis
/
Chromosomes, Human, Pair 18
/
Chromosome Banding
/
Chromosome Deletion
/
Ductus Arteriosus, Patent
/
Karyotyping
Limits:
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Yonsei Medical Journal
Year:
2008
Type:
Article