CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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RING 22 REFERENCE ARTICLES

*Distinctive Phenotype in a case of ring chromosome 22 with features of 22q13.3 Deletion Syndrome. Lam et al. HK J Paediatr. 11:317-319, 2006.

*Molecular and Phenotypic Characterization of Ring Chromosome 22.  Aaron R. Jeffries et al. Am J. Med Genet. 137A: 139-147. 2005.

* Characterization of the Phenotype and Definition of the Deletion in a New Patient with Ring Chromosome 22. Battini, R. et al. Am J Med Genet. 130A: 196-199, 2004.

*Five new subjects with ring chromosome 22. Ishmael, et al. Clinical Genetics. 2003, 63: 410-414.

*Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction. Chen, C. et al, Prenatal Diagnosis, 2003, 23; 40-43.

*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. De Mas, P, et al, J Med Genet 2002; 39:e17.

*Ring Chromosome 22 and Autism: Report and Review. Am J Med Genet 2000 Feb 28;90(5):382-5. MacLean JE et al.

*Newborn Infant with Inhertited Ring and de Novo Interstitial Deletion on Homologous Chromosome 22s. Am J Med Genet 91:351-354 2000
Wenger SL, et al.

*Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation, Frizzley, JK, et al, J Med Genet, March 1999, 237-241, Volume 36(3).

*Ring Chromosome 22 Resulting in Partial Monosomy in a Mentally Retarded Boy. Singapore Med J 1999 Apr;40(4):273-5. Gibbons B, et al.

*Case Report: Ring chromosome 22 and mood disorders.
Sovner, R., Stone, A., Fox, C., Journal of Intellectual Disability Research
Volume 40, Part 1, pp 82-86 February 1996.

*Mutational Analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2
Hildegard Kehrer-Sawatzki, et al. Human Genet 1997 100: 67-74.

*Neurofibromatosis in a man with a ring 22: in situ hybridization studies.
Duncan, Alessandra M.V., Partington, Michael W., Soudek, Dushan
Cancer Genet Cytogenet 25:169-174 1987.

*Chromosome Mosaicism in Hypomelanosis of Ito. Ritter, Catherin L., Steele, Mark W., Wenger, Sharon L., Cohen, Bernard A. Am J Med Genet 35: 14-17 1990.

*Multiple meningiomas in a patient with constitutional ring chromosome 22. Petrella Rena, et al. Am J Med Genet 47:184-186 1993.

*Letter to the Editor: Ring Chromosome 22 Karyotype in a Patient with Opitz (BBBG) Syndrome. Christodoulou, John. Am J Med Genet 37: 422-424 1990.

*Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22. Coulter-Mackie, M.B., Rip., J., Ludman, M.D., Beis, J., Cole, D.E.C. J Med Genet 32: 787-791 1995.

*Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. Joyce, C.A., Zorich., B., Pike, S.J., Barber, J.C.K., Dennis N.R. J Med Genet 33: 986-992 1996.

4 year old girl with ring chromosome 22 and brain tumor Brain Pathol 1997 Jul;7(3):1027-8. Rubio A.

*Ring chromosome 22 and neurofibromatosis. Clin Genet 1992 Oct;42(4):171-7. Tommerup N, Warburg M, Gieselmann V, Hansen BR, Koch J, Petersen GB.

Ring chromosome 22: a case report. Klin Padiatr 1991 Nov-Dec;203(6):467-9 Severien C, Felix S, Bartholome K.

Multifocal meningiomas in a patient with a constitutional ring chromosome 22. J Med Genet 1986 Apr;23(2):178-80 Arinami T, Kondo I, Hamaguchi H, Nakajima S.

Deleted ring chromosome 22 in a mentally retarded boy. Clin Genet 1986 Apr;29(4):337-41. Gustavson KH, Arancibia W, Eriksson U, Svennerholm L.

Phenotypic variation in two patients with a ring chromosome 22. Clin Genet 1979 Nov;16(5):305-10. Funderburk SJ, Sparkes RS, Klisak I.

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 Mar 12;47(2):213-6. Fryns JP, Van den Berghe H.

* Phenotypic correlations in patients with ring chromosome 22. Clin Genet 1977 Oct;12(4):239-49 Hunter AG, Ray M, Wang HS, Thompson DR.

A profoundly mentally handicapped woman with a ring chromosome 22 J Ment Defic Res 1975 Sep-Dec;19(3-4):225-43
Veall RM, Rundle AT, Chitham RC, Saldana-Garcia P.

Methylphenidate therapy for aggression in a man with ring 22 chromosome. Report and literature review Arch Neurol 1985 Jan;42(1):69-72 Reeve A., et al.

Phenotypic variation in two patients with a ring chromosome 22. Clin Genet .1979 Nov;16(5):305-10.

Phenotypic correlations in patients with ring chromosome 22. Clin Genet 1977 Oct; 12(4):239-49.

Link to article on Ring 22 case

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