Tricuspid atresia and 22q11 deletion

Am J Med Genet. 1997 Oct 3;72(1):40-2. doi: 10.1002/(sici)1096-8628(19971003)72:1<40::aid-ajmg8>;2-z.


Tricuspid atresia has not been reported in 22q11 microdeletions causing DiGeorge and velo-cardio-facial syndromes. We investigated the prevalence of 22q11 hemizygosity in 26 children with tricuspid atresia. Fluorescent hybridization with the Sc11.1 probe demonstrated a 22q11 microdeletion in 2 patients, one with and another without transposition of the great arteries. Both deletion patients had minor facial anomalies characteristic of DiGeorge syndrome. The present observations suggest that tricuspid atresia should be included in the list of cardiac malformations seen in del22q11 syndromes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • DiGeorge Syndrome / genetics
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Male
  • Tricuspid Atresia / genetics*