title: Peripheral pulmonary artery stenosis: an unusual case and discussion of genetic associations.
abstract: Peripheral pulmonary artery stenosis is a common congenital heart lesion associated with several genetic syndromes. We have reviewed the genetics of the lesion and present an unusual case of peripheral pulmonary stenosis involving a newly reported genetic deletion on chromosome 16. Further studies will be needed to confirm association of this genotype and phenotype.
authors: Department of Pediatrics, Children's Heart Center, University of Mississippi Medical Center, Jackson, Miss, USA.
authors: My-Linh D
authors: ML
authors: Ngo
authors: Avichal
authors: A
authors: Aggarwal
authors: Jarrod D
authors: JD
authors: Knudson
mesh_terms: D006328:Cardiac Catheterization; D006348:Cardiac Surgical Procedures; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D003251:Constriction, Pathologic; D057510:Endovascular Procedures; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D012307:Risk Factors; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014656:Vascular Surgical Procedures
keywords: Congenital Heart Disease; Genetic Deletions; Pulmonary Stenosis