Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

Am J Med Genet. 1997 Jan 20;68(2):182-4.


Cono-truncal cardiac malformations account for some 50% of congenital heart defects in newborn infants. Recently, hemizygosity for chromosome 22q11.2 was reported in patients with the DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) and causally related disorders. We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 newborn infants referred for cono-truncal heart malformations with associated DGS/VCFS anomalies. A failure of parental inheritance was documented in 84.2% of cases (16/19). PCR-based genotyping using microsatellite DNA markers located within the commonly deleted region allowed us either to confirm or reject a 22q11 microdeletion in 94.3% of cases (18/19) within 24 hours. This test is now currently performed in the infants referred to us for a cono-truncal heart malformation as a first intention screening for 22q11 microdeletion.

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 22 / genetics*
  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics*
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Microsatellite Repeats*
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Deletion