A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

J Med Genet. 2001 Aug;38(8):533-6. doi: 10.1136/jmg.38.8.533.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics*
  • Consanguinity
  • Craniofacial Abnormalities / pathology
  • DiGeorge Syndrome / genetics
  • Family Health
  • Fatal Outcome
  • Heart Defects, Congenital / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Microsatellite Repeats
  • Pedigree
  • Phenotype
  • Syndrome