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

Robert Nickel, D. A M Pillers, Mark Merkens, R. E. Magenis, D. A. Driscoll, B. S. Emanuel, Jonathan (Jon) Zonana

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

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
Volume52
Issue number4
StatePublished - 1994
Externally publishedYes

Fingerprint

DiGeorge Syndrome
Meningomyelocele
Congenital Heart Defects
Neural Tube Defects
Cleft Palate
Cleft Lip
Uvula
Chromosome Deletion
Cytogenetics
Genes

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. / Nickel, Robert; Pillers, D. A M; Merkens, Mark; Magenis, R. E.; Driscoll, D. A.; Emanuel, B. S.; Zonana, Jonathan (Jon).

In: American Journal of Medical Genetics, Vol. 52, No. 4, 1994, p. 445-449.

Research output: Contribution to journalArticle

Nickel, Robert ; Pillers, D. A M ; Merkens, Mark ; Magenis, R. E. ; Driscoll, D. A. ; Emanuel, B. S. ; Zonana, Jonathan (Jon). / Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. In: American Journal of Medical Genetics. 1994 ; Vol. 52, No. 4. pp. 445-449.
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