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CASE REPORT

Autistic disorder and 22q11.2 duplication

, MD &
Pages 127-130 | Received 27 Feb 2006, Published online: 12 Jul 2009

References

  • American Psychiatric Association. 1994. Diagnostic and statistical manual of mental disorders. 4th ed. Washington, DC: American Psychiatric Association Press.
  • Alpas B. 2002. Reliability and validity of Turkish translation of Vineland Adaptive Behaviour Scales. Master thesis, Ankara (in Turkish).
  • Beiraghi S, DeMarco A, Lutz R, Conway K, Moller K. Three new cases of duplication 22q11.2 with neuropsychological problems, learning disability and subtle dysmorphic features. Am J Hum Genet 2004; 75((Suppl))138
  • Carratala F, Galan F, Moya M, et al. A patient with autistic disorder and a 20/22 chromosomal translocation. Dev Med Child Neurol 1998; 40: 492–495
  • Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999; 8: 1157–1167
  • Ensenauer RE, Adeyinka A, Flynn HC, et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003; 73: 1027–1040
  • Fine SE, Weissman A, Gerdes M, et al. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 2005; 35: 461–470
  • Gurkan A, Sutcu ST. 2004. Reliability and validity of Turkish translation of Autism Behaviour Checklist. Second Istanbul Autism Symposium, Abstract book, 38 (in Turkish).
  • Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 2004a; 65: 400–404
  • Hassed S, Vaz SA, Lee J, Mulvihill JJ, Li S. Expanded phenotype of the 22q duplication syndrome. Am J Hum Genet 2004b; 75: 151
  • Kozma C. On cognitive variability in velocardiofacial syndrome: Profound mental retardation and autism. Am J Med Genet 1998; 81: 269–270
  • Lamb A, Kumar R, Pellegrino JE, et al. Searching for patients with the 22q11.2 duplication syndrome: Confirmation that some patients have phenotypic overlap with DiGeorge/velocardiofacial syndrome. Am J Hum Genet 2004; 75(Suppl)191
  • MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJM. Ring chromosome 22 and autism: report and review. Am J Med Genet 2000; 90: 382–385
  • Niklasson L, Rasmussen P, Oskarsdottir S, Gillberg C. Chromosome 22q11 deletion syndrome (CATCH 22): Neuropsychiatric and neuropsychological aspects. Dev Med Child Neurol 2002; 44: 44–50
  • Portnoi MF, Lebas F, Gruchy N, et al. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet A 2005; 137: 47–51
  • Prasad C, Prasad AN, Chodirker BN, et al. Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. Clin Genet 2000; 57: 103–109
  • Sucuglu B, Oktem F, Akkok F, Gokler B. 1996. A study of the scales for the assessment of the children with autism. Psikiyatri, Psikoloji, Psikofarmakoloji (3P) 4: 116–121 (in Turkish).
  • Sparkes R, Chernos J, Dicke F. Duplication of the 22q11.2 region associated with congenital cardiac disease. Cardiology in Young 2005; 15: 229–231
  • Somerville MJ, Morrison W, Christiansen J, et al. Microduplication 22q11.2 causes isolated cognitive and/or behavioural disability. Am J Hum Genet 2004; 75(Suppl)55
  • Turner B, Jennings AN. Trisomy of chromosome 22. Lancet 1962; i: 49–50
  • Vorstman JAS, Staal WG, van Daalen E, van Engeland H, Hochstenbach PFR, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006; 11: 18–28
  • Yobb TM, Somerville MJ, Willat L, et al. Microduplication and triplication of 22q11.2: A highly variable syndrome. Am J Hum Genet 2005; 76: 865–876

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