Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
Yonsei Medical Journal
;
: 500-502, 2008.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pulmonary Valve Stenosis
/
Chromosomes, Human, Pair 18
/
Chromosome Banding
/
Chromosome Deletion
/
Ductus Arteriosus, Patent
/
Karyotyping
Limits:
Child, preschool
/
Humans
/
Male
Language:
English
Journal:
Yonsei Medical Journal
Year:
2008
Type:
Article
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