Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome

Am J Med Genet A. 2005 Oct 1;138A(2):185-6. doi: 10.1002/ajmg.a.30916.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / physiopathology
  • Adolescent
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18 / genetics*
  • Ductus Arteriosus, Patent / pathology*
  • Echocardiography
  • Female
  • Heart Septal Defects / pathology*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male
  • Pulmonary Valve / abnormalities*
  • Syndrome