Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

R. E. Nickel, D. A.M. Pillers, M. Merkens, R. E. Magenis, D. A. Driscoll, B. S. Emanuel, J. Zonana

Research output: Contribution to journalArticlepeer-review

50 Scopus citations


Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both also have bifid uvula. The third child had DiGeorge sequence (DGS). The association of NTDs with 22q11 deletions has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions.

Original languageEnglish (US)
Pages (from-to)445-449
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1994
Externally publishedYes


  • DiGeorge sequence
  • cleft palate
  • congenital heart defect
  • conotruncal heart defect
  • deletion 22q11
  • meningomyelocele
  • neural tube defect
  • velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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