VELO-CARDIO-FACIAL SYNDROME AND DIGEORGE SEQUENCE WITH MENINGOMYELOCELE AND DELETIONS OF THE 22Q11 REGION

Approximately 5% of children with neural tube defects (NTDs) have a co ngenital heart defect and/or cleft lip and palate. The cause of isolat ed 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 conge nital 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 o f 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 diagnosi s of the 22q11 deletion is critical as this micro-deletion and its ass ociated clinical problems is transmitted as an autosomal dominant trai t due to the inheritance of the deletion-bearing chromosome. We recomm end that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. (C) 1994 Wiley Liss, Inc.