Deletion 22q11: Spectrum of Associated Disorders

Seminars in Pediatric Neurology

Volumn 14, Issue 3, 2007, Pages 136-139

  Hay, Beverly N ^a  

^a Pediatric Genetics   (United States)

Author keywords

22q11 deletion; DiGeorge syndrome; review; VDFS

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; FACE MALFORMATION; HUMAN; LEARNING DISORDER; MENTAL DISEASE; PALATE MALFORMATION; VELOCARDIOFACIAL SYNDROME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; HUMANS;

EID: 35548969267     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2007.07.005     Document Type: Article

References (26)

1. Shprintzen R.J., Goldberg R.B., Lewin M.L., et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome. Cleft Palate J 15 (1978) 56-62
2. Botto L.D., May K., Fernhoff P.M., et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112 (2003) 101-107
3. Velo-Cardio-Facial Syndrome Educational Foundation. Specialist Fact Sheet (2007). http://vcfsef.org/articles/en/pdf/factsheet.PDF Available at: http://vcfsef.org/articles/en/pdf/factsheet.PDF. Accessed May 15, 2007
4. McElhinney D.B., Driscoll D.A., Levin E.R., et al. Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 112 (2003) 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 163 (2004) 642-645
6. Sivertsen A., Lie R.T., Wilcox A.J., 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 143 (2007) 129-134
7. McDonald-McGinn D.M., Kirschner R., Goldmuntz E., et al. The Philadelphia story: The 22q11.2 deletion: report on 250 patients. Genet Couns 10 (1999) 11-24
8. Oskarsdottir S., Persson C., Eriksson B.O., et al. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 164 (2005) 146-153
9. Goodship J., Robson S.C., Sturgiss S., et al. Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome. Prenat Diagn 17 (1997) 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 116 (2005) e457-e460
11. Kar P.S., Ogoe B., Poole R., et al. Di-George syndrome presenting with hypocalcaemia in adulthood: Two case reports and a review. J Clin Pathol 58 (2005) 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 M.L., et al. Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr Allergy Immunol 17 (2006) 382-388
14. Markert M.L., Boeck A., Hale L.P., et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med 341 (1999) 1180-1189
15. Markert M.L., Devlin B.H., Alexieff M.J., et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: Outcome of 44 consecutive transplants. Blood 109 (2007) 4539-4547
16. Antshel K.M., 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 S.H., Kiley-Brabeck K., et al. Neuromotor deficits in children with the 22q11 deletion syndrome. Mov Disord 21 (2006) 2082-2089
18. Antshel K.M., Kates W.R., Roizen N., et al. 22q11.2 deletion syndrome: Genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychol 11 (2005) 5-19
19. Bearden C.E., van Erp T.G., Dutton R.A., et al. Mapping cortical thickness in children with 22q11.2 deletions. Cereb Cortex 17 (2007) 1889-1898
20. Bearden C.E., Jawad A.F., Lynch D.R., et al. Effects of COMT genotype on behavioral symptomatology in the 22q11.2 deletion syndrome. Child Neuropsychol 11 (2005) 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]
22. Murphy K.C., Jones L.A., and Owen M.J. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56 (1999) 940-945
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 164 (2007) 663-669
24. Forbes B.J., Binenbaum G., Edmond J.C., et al. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS 11 (2007) 179-182
25. Bassett A.S., Chow E.W., Husted J., et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 138 (2005) 307-313
26. Snadrin-Garcia P., Abramides D.V.M., Martelli L.R., et al. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Mol Cell Biochem 303 (2007) 9-17