Ring Chromosome 22: A Review of the Literature and First Report from India

S Mahajan; A Kaur; J Singh

doi:10.2478/v10034-012-0009-8

Abstract

Ring chromosome 22 [r(22)], a rare cytogenetic finding, has been described in nearly 70 cases to date. Cytogenetic investigations were carried out on a 5-year-old male child with microcephaly and intellectual disability. Cytogenetic investigations revealed his karyotype to be 46, XY, r(22). To the best of our knowledge, this is the first report of an r(22) anomaly from India.

References

Weleber RG, Hetch F, Giblett ER. Ring-G chromosome, a new G-deletion syndrome? Am J Dis Child. 1968; 115(4): 489-493.10.1001/archpedi.1968.021000104910154296014
Search in Google Scholar
Koc A, Karaer K, Ergun MA, Yirmibes-Karaoguz M, Kan D, Cansu A, Percin FA. Case with ring 22. Turkish J Pediat. 2008; 50(2): 193-196.
Search in Google Scholar
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.
Search in Google Scholar
Kaur A, Mahajan S, Singh JR. Cytogenetic profile of individuals with mental retardation. Int J Hum Genet. 2003; 3(1): 13-16.10.1080/09723757.2003.11885821
Search in Google Scholar
Kaur A, Dhillon S, Garg PD, Singh JR. Ring chromosome 7 in an Indian woman. J Intellect Dev Disabil. 2008; 33(1): 87-94.10.1080/1366825070182982918300171
Search in Google Scholar
Demirahan O, Tunc E. Phenotypic correlations in a patient with ring chromosome 22. Ind J Hum Genet. 2010; 16(2): 97-99.10.4103/0971-6866.69372295595921031059
Search in Google Scholar
Kirshenbaum G, Chmura M, Rhone DP.m Long arm deletion of chromosome 22. J Med Genet. 1998; 25(11): 780.10.1136/jmg.25.11.78010515863236358
Search in Google Scholar
Lam AC, Lai KK, Lam ST. 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.
Search in Google Scholar
Severian C, Felix S, Bartholome K. Ring chromosome 22: a case report. Clin Paediatr. 1991; 203(6): 294-296.10.1055/s-2007-10254761721941
Search in Google Scholar
Teyssier M, Moreau N. Familial transmission of deleted chromosome 22 [r(22)] in two normal women. Ann Genet. 1985; 28(2): 116-118.
Search in Google Scholar
Kosztolanyi G. Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet. 1987; 75(2): 174-179.10.1007/BF005910823817812
Search in Google Scholar
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): 690-696.10.1136/jmg.40.9.690173558412960216
Search in Google Scholar
Magenis RE, Armendares S, Hetch F, Weleber RG, Overton K. Identification by fluorescence of two G rings: (46, XY, 21r) G deletion syndrome II. Ann Genet. 1972; 15(4): 265.
Search in Google Scholar
Veal RM, Rundle AT, Chitham RC, Saldana-Gracia P. A profoundly mentally handicapped woman with a ring chromosome 22. J Ment Defic Res. 1975; 19(3-4): 225-243.10.1111/j.1365-2788.1975.tb01275.x1214291
Search in Google Scholar
Hunter AG, Ray M, Wang HS, Thompson DR. Phenotypic correlations in patients with ring chromosome 22. Clin Genet. 1977; 12(4): 239-249.10.1111/j.1399-0004.1977.tb00933.x912941
Search in Google Scholar
Faed MJ, Roberson J, Field MA, Mellon JP. A chromosome survey of a hospital for the mentally subnormal. Clin Genet. 1979; 16(3): 191-204.10.1111/j.1399-0004.1979.tb00990.x158447
Search in Google Scholar
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): 213-216.10.1007/BF00273205437787
Search in Google Scholar
Funderburk SJ, Sparkes RS, Klisak I. Phenotypic variation on two patients with a ring chromosome 22. Clin Genet. 1979; 16(5): 305-310.10.1111/j.1399-0004.1979.tb01007.x519902
Search in Google Scholar
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): 177-182.10.1111/j.1399-0004.1980.tb00130.x6444857
Search in Google Scholar
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.
Search in Google Scholar
Stoll C, Roth MP. Segregation of a 22 ring chromosome in three generations. Hum Genet. 1983; 63(3): 294-296.10.1007/BF002846696852827
Search in Google Scholar
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): 69-72.10.1001/archneur.1985.040600100750193966887
Search in Google Scholar
Gustavson KH, Arancibia W, Eriksson U, Svennerholm L. Deleted ring chromosome 22 in a mentally retarded boy. Clin Genet. 1986; 29(4): 337-341.10.1111/j.1399-0004.1986.tb01264.x2872982
Search in Google Scholar
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): 93-95.10.2183/pjab.63.93
Search in Google Scholar
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): 67-73.10.1007/BF018912422455825
Search in Google Scholar
Severian C, Felix S, Bartholome K. Ring chromosome 22: a case report. Klin Padiatr. 1993; 203(6): 294-296.
Search in Google Scholar
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): 184-186.10.1002/ajmg.13204702118213904
Search in Google Scholar
Snover R, Stone A, Fox C. Ring chromosome 22 and mood disorders. J Intellect Disabil Res. 1986; 40(Pt. 1): 82-86.10.1111/j.1365-2788.1996.tb00607.x
Search in Google Scholar
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.
Search in Google Scholar
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): 351-354.10.1002/(SICI)1096-8628(20000424)91:5<;351::AID-AJMG6>3.0.CO;2-A
Search in Google Scholar
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 refinement of the subtelomeric 22q deletion syndrome. J Med Genet. 2002; 39(4): e17.10.1136/jmg.39.4.e17
Search in Google Scholar
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.
Search in Google Scholar
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.
Search in Google Scholar
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): 40-43.10.1002/pd.517
Search in Google Scholar
Battini R, Battalgia A, Bertini V, Cieni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valeto A. Characterization of the phenotype and identification of the deletion in a new patient with ring chromosome 22. Am J Med Genet. 2004; 130(2): 196-199.10.1002/ajmg.a.30276
Search in Google Scholar
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): 139-147.10.1002/ajmg.a.30780
Search in Google Scholar
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.
Search in Google Scholar
Tommerup N, Lothe R. Constitutional ring chromosome and tumour suppressor genes. J Med Genet. 1992; 29(12): 879-882.10.1136/jmg.29.12.879
Search in Google Scholar
Assumpcao FB Jr. Brief report: a case of chromosome 22 aberration associated with autistic syndrome. J Autism Dev Disord. 1998; 28(3): 253-256.10.1023/A:1026025606967
Search in Google Scholar
MacLean JE, Teshima IE, Szatmani P, Nowaczyk MJ. Ring chromosome 22 and autism: report and review. Am J Med Genet. 2000; 90(5): 382-385.10.1002/(SICI)1096-8628(20000228)90:5<;382::AID-AJMG7>3.0.CO;2-T
Search in Google Scholar
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.
Search in Google Scholar
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.
Search in Google Scholar
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): 91-99.10.1002/1096-8628(20010615)101:2<;91::AID-AJMG1340>3.0.CO;2-C
Search in Google Scholar
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): 635-637.10.1002/pd.95515305353
Search in Google Scholar
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): 451-457.10.1542/peds.114.2.45115286229
Search in Google Scholar

Ring Chromosome 22: A Review of the Literature and First Report from India

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