1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-10-93-a 10.15844/pedneurbriefs-10-12-7 Developmental Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Neural Tube Defects and Chromosome Deletions http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 12 1996 01 06 2016 10 12 93 93 Copyright: © 1996 The Author(s) 1996 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Neural tube defects and deletions of 22q11

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.

 Neural Tube Defects Hypocalcemia Conotruncal Defect

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.

Nickel RE Magenis RE Neural tube defects and deletions of 22q11 Am J Med Genet 1996 Dec 2 66 1 25 27 10.1002/(SICI)1096-8628(19961202)66:1<25::AID-AJMG6>3.3.CO;2-A 8957506