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
1. Weleber RG, Hetch F, Giblett ER. Ring-G chromosome,
a new G-deletion syndrome? Am J Dis Child.
1968; 115(4): 489-493.
2. 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.
3. 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.
4. Kaur A, Mahajan S, Singh JR. Cytogenetic profi le
of individuals with mental retardation. Int J Hum
Genet. 2003; 3(1): 13-16.
5. Kaur A, Dhillon S, Garg PD, Singh JR. Ring chromosome
7 in an Indian woman. J Intellect Dev Disabil.
2008; 33(1): 87-94.
6. Demirahan O, Tunc E. Phenotypic correlations in a
patient with ring chromosome 22. Ind J Hum Genet.
2010; 16(2): 97-99.
7. Kirshenbaum G, Chmura M, Rhone DP. Long arm
deletion of chromosome 22. J Med Genet. 1998;
25(11): 780.
8. 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.
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.
|
|
|
|
 |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
|
