Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome

Ann Genet. 2000 Apr-Jun;43(2):105-7. doi: 10.1016/s0003-3995(00)01013-3.

Abstract

We describe an uncommon association of deletion 22q11 in a patient with Klinefelter syndrome. Even though congenital heart defects (CHD) are not associated with Klinefelter syndrome, further investigation of this patient with patent ductus arteriosus showed a microdeletion of chromosome 22q11.2. While this finding may be coincidental, it is important to further evaluate patients when the clinical features are suggestive of a secondary abnormality.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Ductus Arteriosus, Patent / genetics*
  • Ductus Arteriosus, Patent / pathology
  • Humans
  • In Situ Hybridization
  • Karyotyping
  • Klinefelter Syndrome / complications
  • Klinefelter Syndrome / genetics*
  • Male