Patients with neural tube defects (NTDs) complicated by congenital heart defects, facial anomalies, thymic hypoplasia, cleft lip or palate, or hypocalcemia and a family history of NTDs and other anomalies were tested for 22qll deletions at the Departments of Pediatrics and Molecular Genetics, Oregon Health Sciences University, Eugene, Oregon. Of 295 patients identified with NTDs, 22 had at least one more clinical anomaly and/or a positive family history. Fetal alcohol and valproate syndromes were excluded. Cytogenetic analysis and molecular testing on 16 revealed 22qll deletions in 3 and normal results in 13. Deletion of 22qll was an infrequent cause of NTDs. [1]

COMMENT. Cytogenetic testing for the 22qll deletion is recommended in infants with neural tube defects complicated by congenital heart defects, particularly conotruncal defect, and in those with a family history of the heart defect, velo-cardio-facial syndrome, or DiGeorge sequence.