• 1
    American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th edn, revised. Washington, DC: American Psychiatric Association, 1994.
  • 2
    Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999; 8: 115767.
  • 3
    Hassed S, Vaz SA, Lee J, Mulvihill JJ, Li S. Expanded phenotype of the 22q duplication syndrome. Am J Hum Genet 2004; 75 (Suppl.): 151.
  • 4
    Mukaddes NM, Herguner S. Autistic disorder and 22q11.2 duplication. World J Biol Psychiatry 2007; 8: 12730.
  • 5
    Schopler E, Reichler RJ, DeVellis RF, Daly K. Toward objective classification of childhood autism. Childhood Autism Rating Scale (CARS). J Autism Dev Discord 1980; 10: 91103.
  • 6
    Lord C, Rutter M, Goode S, et al. Autism Diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord 1989; 19: 185212.
  • 7
    Schopler E, Reichler RJ, Bashford A, Lansing MD, Marcus LM. Individualized assessment and treatment for autistic and developmentally disabled children vol 1 Psychoeducational Profile–Revised. PRO-ED Inc Austin, Texas.
  • 8
    Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004; 113: 47286.
  • 9
    Klauck SM. Genetics of autism spectrum disorder. Eur J Hum Genet 2006; 14: 71420.
  • 10
    Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Med Genet 2005; 6: 3.
  • 11
    Vorstman JA, Morcus ME, Duijff SN, et al. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 2006; 45: 110413.
  • 12
    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: 102740.
  • 13
    De La Rochebrochard C, Joly-Helas G, Goldenberg A, et al. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A 2006; 140: 160813.
  • 14
    De Braekeleer M, Tremblay M, Thivierge J. Genetic analysis of genealogies in mentally retarded autistic probands from Saguenay Lac-Saint-Jean (Quebec, Canada). Ann Genet 1996; 39: 4750.
  • 15
    Jorde LB, Mason-Brothers A, Waldmann R, et al. The UCLA–University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. Am J Med Genet 1990; 36: 8588.
  • 16
    Yobb TM, Somerville MJ, Willatt L, et al. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005; 76: 86576.