Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

Hum Genet. 1995 Jul;96(1):9-13. doi: 10.1007/BF00214179.


We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • DiGeorge Syndrome / genetics*
  • Face / abnormalities*
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid

Associated data

  • GENBANK/X62391