Coexistence of Autism and Ring Chromosome 22

The incidence of ring chromosome 22, which was first described by Weber et al. in 1968, is not known yet. Phenotypic features such as craniofacial anomalies, growth and developmental retardation, hypotonia, mental retardation, delay in motor skills, and syndactyly in the 2nd and 3rd toes are observed in cases with ring chromosome 22. Ring chromosome 22 abnormality has rarely been reported in children diagnosed with autism spectrum disorder. Herein, we will disarss a sixyear old boy having a karyotype of 46, XY, r (22) (p11.2q13), ish del (22qter) (MS607 -) on cytogenetic examination who was diagnosed with autism spectrum disorder.

___

1.American Psychiatric Association. Diagnostic and statistical manual of mental disorders (5th ed.). Arlington, VA: American Psychiatric Publishing (2013).

2. Sadock B, Ruiz P. Kaplan & Sadock's synopsis of psychiatry: behavioral sciences. Walters Kluwer 2015.

3. Wing L, Gould J. Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification. J Autism Dev Disord 1979; 9: 11-29.

4. Vorstman J, Staal W, Van Daalen E, et al. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006; 11: 18.

5. Betancur CJ. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011; 1380: 42-77.

6. Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Walter de Gruyter; 2001.

7. Weleber RG, Hecht F, Giblett ER. Ring-G chromosome, a new G-deletion syndrome? Am J Dis Child 1968;115: 489-493.

8. Demirhan O, Tunç E. Phenotypic correlations in a patient with ring chromosome 22. Indian J Hum Genet 2010; 16: 97.

9. Hunter AGW , Ray M, Wang HS, Thompson DR. Phenotypic correlations in patients with ring chromosome 22. Clin Genet 1977; 12: 239-249.

10. Assumpcao FB Brief report: a case of chromosome 22 alteration associated with autistic syndrome. J Autism Dev Disord 1998; 28: 253-256.

11. Battini R, Battaglia A, Bertini V, et al. Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22. Am J Med Genet 2004; 130: 196-199.

12. Jeffries AR, Curran S, Elmslie F, et al. Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet 2005; 137: 139-147.

13. Lam A, Lai K, Lam S. Case Report Distinctive Phenotype in a Case of Ring Chromosome 22 with Features of 22q13. 3 Deletion Syndrome. HK J Paediatr 2006; 11: 317-319.

14. Mahajan S, Kaur A, Singh J. Ring chromosome 22: a review of the literature and first report from India. Balk J Med Genet 2012; 15: 55-59.

15. Gibbons B, Tan SY, Tam PY. Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy. Singapore Med J 1999; 40: 273-275.

16. De Mas P, Chassaing N, Chaix Y, et al. Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. J Med Genet 2002; 39: e17-e.

17.MacLean JE, Teshima IE, Szatmari P, et al. Ring chromosome 22 and autism: report and review. Am J Med Genet 2000; 90: 382-385.

18. Guilherme RS, Soares KC, Simioni M, et al. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11. 2 deletion. Am J Med Genet 2014; 164: 1659-1665.

19. Lejeune J. On the duplication of circular structures. Ann Genet 1968; 11: 71-77.

20. Denayer E, Brems H, De Cock P, et al. Pathogenesis of vestibular schwannoma in ring chromosome 22. BMC Med Genet 2009; 10: 97.

21. Zirn B, Arning L, Bartels I, et al. Ring chromosome 22 and neurofibromatosis type II: proof of two‐hit model for the loss of the NF2 gene in the development of meningioma. Clin Genet 2012; 81: 82-87.

22. Evans DGR, Huson S, Donnai D, et al. A clinical study of type 2 neurofibromatosis. QJM-Int J Med 1992; 84: 603-618.

23. Lyons-Warren AM, Cheung SW, Holder JL. Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2 One ring to bind them. Neurology 2017; 89: 205-209.

24. Sovner R, Stone A, Fox C. Ring chromosome 22 and mood disorders. J Intellect Disabil Res 1996; 40: 82-86.

25. Reeve A, Shulman SA, Zimmerman AW, et al. Methylphenidate therapy for aggression in a man with ring 22 chromosome: report and literature review. Arch Neurol 1985; 42: 69- 72.

26. Phelan MC. Deletion 22q13. 3 syndrome. Orphanet J Rare Dis 2008; 3: 14.

27. Phelan K, Rogers RC, Boccuto L. PhelanMcDermid Syndrome. GeneReviews® [internet]: University of Washington, Seattle; 2018.

28. Durand CM, Betancur C, Boeckers TM, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007; 39: 25.

29. Philippe A, Boddaert N, Vaivre-Douret L, et al. Neurobehavioral profile and brain imaging study of the 22q13. 3 deletion syndrome in childhood. Pediatrics 2008; 122: 376-382.

30. Cusmano‐Ozog K, Manning MA, Hoyme HE. 22q13. 3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet Part C: Seminars in Medical Genetics 2007; 145: 393-398.

31. Koç A, Karaer K, Ergun MA, et al. A case with a ring chromosome 22. Turk J Pediatr 2008; 50: 193.
Eastern Journal of Medicine-Cover
  • ISSN: 1301-0883
  • Başlangıç: 1996
  • Yayıncı: ERBİL KARAMAN