Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 136-139 , September 2007

Deletion 22q11: Spectrum of Associated Disorders

  • Beverly N. Hay, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Beverly N. Hay, MD, Pediatric Genetics, 55 Lake Avenue North, Worcester, MA 01655.

References 

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  2. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101–107
  3. Velo-Cardio-Facial Syndrome Educational Foundation. Specialist Fact Sheet. 2007;Available at: http://vcfsef.org/articles/en/pdf/factsheet.PDF. Accessed May 15, 2007
  4. McElhinney DB, Driscoll DA, Levin ER, et al. Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics. 2003;112:e472–e476
  5. Rauch R, Rauch A, Koch A, et al. Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes. Eur J Pediatr. 2004;163:642–645
  6. Sivertsen A, Lie RT, Wilcox AJ, et al. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet A. 2007;143:129–134
  7. McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: The 22q11.2 deletion: report on 250 patients. Genet Couns. 1999;10:11–24
  8. Oskarsdottir S, Persson C, Eriksson BO, et al. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164:146–153
  9. Goodship J, Robson SC, Sturgiss S, et al. Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome. Prenat Diagn. 1997;17:867–870
  10. Al-Tamemi S, Mazer B, Mitchell D, et al. Complete DiGeorge anomaly in the absence of neonatal hypocalcemia and velofacial and cardiac defects. Pediatrics. 2005;116:e457–e460
  11. Kar PS, Ogoe B, Poole R, et al. Di-George syndrome presenting with hypocalcaemia in adulthood: Two case reports and a review. J Clin Pathol. 2005;58:655–657
  12. GeneReviews-22q11.2 deletion syndrome. Available at: http://www.genetests.org. Accessed May 15, 2007
  13. Finocchi A, Di Cesare S, Romiti ML, et al. Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr Allergy Immunol. 2006;17:382–388
  14. Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999;341:1180–1189
  15. Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: Outcome of 44 consecutive transplants. Blood. 2007;109:4539–4547
  16. Antshel KM, Aneja A, Strunge L, et al. Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord. 2006;[Epub ahead of print]
  17. Sobin C, Monk SH, Kiley-Brabeck K, et al. Neuromotor deficits in children with the 22q11 deletion syndrome. Mov Disord. 2006;21:2082–2089
  18. Antshel KM, Kates WR, Roizen N, et al. 22q11.2 deletion syndrome: Genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychol. 2005;11:5–19
  19. Bearden CE, van Erp TG, Dutton RA, et al. Mapping cortical thickness in children with 22q11.2 deletions. Cereb Cortex. 2007;17:1889–1898
  20. Bearden CE, Jawad AF, Lynch DR, et al. Effects of COMT genotype on behavioral symptomatology in the 22q11.2 deletion syndrome. Child Neuropsychol. 2005;11:109–117
  21. van Amelsvoort T, Zinkstok J, Figee M, et al. Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome. Psychol Med. 2007;[Epub ahead of print]
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  23. Gothelf D, Feinstein C, Thompson T, et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 Deletion Syndrome. Am J Psychiatry. 2007;164:663–669
  24. Forbes BJ, Binenbaum G, Edmond JC, et al. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS. 2007;11:179–182
  25. Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A. 2005;138:307–313
  26. Snadrin-Garcia P, Abramides DVM, Martelli LR, et al. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Mol Cell Biochem. 2007;303:9–17

PII: S1071-9091(07)00051-4

doi: 10.1016/j.spen.2007.07.005

Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 136-139 , September 2007

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