RING CHROMOSOME 22: A REVIEW OF THE LITERATURE AND FIRST REPORT FROM INDIA
Mahajan S, Kaur A, Singh JR
*Corresponding Author: Dr. Anupam Kaur, Department of Human Genetics, Guru Nanak Dev University, Grand Trunk Road, Amritsar, Punjab, 143005, India; Tel.: +91-183-225-8802, Ext. 3447; Cell: +987-223-9393; Fax: +91-183-225-8863, 225-8820; E-mail: anupamkaur@yahoo.com
page: 55

REFERENCES

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Distinctive phenotype in a case of ring chromosome 22 with features of 22q13.3 deletion syndrome. Hong Kong J Paediatr. 2006; 11(4): 317-319. 9. Severian C, Felix S, Bartholome K. Ring chromosome 22: a case report. Clin Paediatr. 1991; 203(6): 294-296. 10. Teyssier M, Moreau N. Familial transmission of deleted chromosome 22 [r(22)] in two normal women. Ann Genet. 1985; 28(2): 116-118. 11. Kosztolanyi G. Does “ring syndrome” exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet. 1987; 75(2): 174-179. 12. Luciani JJ, De Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, Mattei MG. Telomeric 22q13 deletions resulting from rings, simple deletions and translocations: cytogenetic, molecular and clinical analysis of 32 new observations. J Med Genet. 2003; 40(9): 690-696. 13. Magenis RE, Armendares S, Hetch F, Weleber RG, Overton K. Identifi cation by fl uorescence of two G rings: (46,XY,21r) G deletion syndrome II. Ann Genet. 1972; 15(4): 265. 14. Veal RM, Rundle AT, Chitham RC, Saldana-Gracia P. A profoundly mentally handicapped woman with a ring chromosome 22. J Ment Defi c Res. 1975; 19(3- 4): 225-243. 15. Hunter AG, Ray M, Wang HS, Thompson DR. Phenotypic correlations in patients with ring chromosome 22. Clin Genet. 1977; 12(4): 239-249. 16. Faed MJ, Roberson J, Field MA, Mellon JP. A chromosome survey of a hospital for the mentally subnormal. Clin Genet. 1979; 16(3): 191-204. 17. Fryns JP, Van den Berghe H. Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22, t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother. Hum Genet. 1979; 47(2): 213-216. 18. Funderburk SJ, Sparkes RS, Klisak I. Phenotypic variation on two patients with a ring chromosome 22. Clin Genet. 1979; 16(5): 305-310. 19. Kondo I, Hamaguchi H, Nakajima S, Haneda T. A cytogenetic survey of 449 patients in a Japanese institution for the mentally retarded. Clin Genet. 1980; 17(3): 177-182. 20. Hammers AJ, Kelp-de-Pater JM, de France HF. Partial duplication in a ring chromosome 22. A mentally retarded boy with increased levels of arysulphatase A and alpha galactosidase. Ann Genet. 1983; 26(1): 34-37. 21. Stoll C, Roth MP. Segregation of a 22 ring chromosome in three generations. Hum Genet. 1983; 63(3): 294-296. 22. Reeve A, Shulman A, Zimmerman AW, Cassiday SB. Methylphenidate therapy for aggression in a man with ring 22 chromosome. Report and literature review. Arch Neurol. 1985; 42(1): 69-72. 23. Gustavson KH, Arancibia W, Eriksson U, Svennerholm L. Deleted ring chromosome 22 in a mentally retarded boy. Clin Genet. 1986; 29(4): 337-341. 24. Kadotani T, Kanata S, Watanabe Y, Kurosaki T, Toi O. A case of ring chromosome 22 with mental retardation. Proc Jpn Acad. 1987; 63(3): 93-95. 25. Naritomi K, Hirayana K. Determination of the breakpoints and the parental origin of ring 22 chromosome: an analysis by high resolution banding technique, quinacrine and silver staining. J Hum Genet. 1988; 33(1): 67-73. 26. Severian C, Felix S, Bartholome K. Ring chromosome 22: a case report. Klin Padiatr. 1993; 203(6): 294-296. 27. Petrella R, Levine S, Wilmot PL, Ashar KD, Casamassima AC, Shapiro LR. Multiple meningiomas in a patient with constitutional ring chromosome 22. Am J Med Genet. 1993; 47(2): 184-186. 28. Snover R, Stone A, Fox C. Ring chromosome 22 and mood disorders. J Intellect Disabil Res. 1986; 40(Pt. 1): 82-86. 29. Gibbons B, Tan SY, Tam PY. Ring chromosome 22 resulting on a partial monosomy in a mentally retarded boy. Singapore Med J. 1999; 40(4): 273-275. 30. Wenger SL, Boone LY, Cummins JH, Del Vecchio MA, Bay CA, Hummel M, Mowery-Rushton PA. Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22. Am J Med Genet. 2000; 91(5): 351-354. 31. De Mas P, Chassaing N, Chaix Y, Vincent MC, Julia S, Bourrouillon G, Calvas P, Beith E. Molecular characterization of a ring chromosome 22 in a patient with severe language delay: a contribution to the refi nement of the subtelomeric 22q deletion syndrome. J Med Genet. 2002; 39(4): e17. 32. Ishmael HA, Cataldi D, Begleiter ML, Pasztor LM, Butler MG. (2003) Five new subjects with ring chromosome 22. Am J Med Genet A. 2003; 63(5): 410-414. 33. Bertini V, Valetto A, Battini R, Rossi S, Giuliani C, Rapallini E, Simi P. (2003) Characterization of a 22 ring chromosome in a child with language delay and autism (Abstract). Proceedings of the 4th European Cytogenetics Conference, Bologna, Italy, 6-9 September, 2003. 34. Chen CP, Chen R, Chang TY, Lee CC, Chen LF, Tzen CY, Wang W, Lin CJ, Yang BP, Yang LS. Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and interuterine growth restriction. Prenat Diagn. 2003; 23(1): 40-43. 35. Battini R, Battalgia A, Bertini V, Cieni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valeto A. Characterization of the phenotype and identifi cation of the deletion in a new patient with ring chromosome 22. Am J Med Genet. 2004; 130(2): 196-199. 36. Jefferies AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J. Molecular phenotypic characterization of ring chromosome 22. Am J Med Genet A. 2005; 137(2): 139-147. 37. Lam AC, Lai KK, Lam ST. Distinctive phenotype in a case of ring chromosome 22 with features of 22q13.3 deletion syndrome. HKJ Paediatr. 2006; 11(4): 317-319. 38. Tommerup N, Lothe R. Constitutional ring chromosome and tumour suppressor genes. J Med Genet. 1992; 29(12): 879-882. 39. Assumpcao FB Jr. Brief report: a case of chromosome 22 aberration associated with autistic syndrome. J Autism Dev Disord. 1998; 28(3): 253-256. 40. MacLean JE, Teshima IE, Szatmani P, Nowaczyk MJ. Ring chromosome 22 and autism: report and review. Am J Med Genet. 2000; 90(5): 382-385. 41. Nesslinger NJ, Gorsky JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BR, McDermid HE. Clinical, cytogenetic, and molecular characterization of severe patients with deletions of chromosome 22q13.3. Am J Hum Genet. 1985; 54(3): 464-472. 42. Wong AC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, McDermid HE. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mental retardation. Am J Hum Genet. 1997; 60(1): 113-120. 43. Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. 22q13 Deletion syndrome. Am J Med Genet. 2001; 101(2): 91-99. 44. Delcan J, Orera M, Linares R, Saavedra D, Palsmar A. A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, formix and septum pellucidum. Prenat Diagn. 2004; 24(8): 635-637. 45. Manning MA, Cassidy SB, Clercuzio, C, Chery AM, Schwatz S, Hudgins Z, Enns GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Paediatrics. 2004;114(2): 451-457.



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