Ring chromosome 22 resulting in partial monosomy in a mentally retarded boy

Singapore Medical Journal

Volumn 40, Issue 4, 1999, Pages 273-275

  Gibbons, B ^a,c   Tan, S Y ^a   Tam, P Y ^b  

^a GLENEAGLES HOSPITAL   (Singapore)

^b HOSPITAL SULTANAH AMINAH   (Malaysia)

^c ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

Mental retardation; Partial monosomy

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22; GENETICS; HUMAN; KARYOTYPING; MALE; MENTAL DEFICIENCY; MONOSOMY; MULTIPLE MALFORMATION SYNDROME; RING CHROMOSOME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 22; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; MONOSOMY; RING CHROMOSOMES;

EID: 0033110077     PISSN: 00375675     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE. Clinical, cytogenetic, and molecular characterisation of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 1994; 54:464-72.
2. Gosden CM, Davidson C, Robertson M. Chapter 2 Lymphocyte culture in human cytogenetics a practical approach. Eds Rooney DE, Czepulkowski BH. IRL Press 1992.
3. 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 mild mental retardation. Am J Hum Genet 1997:113-20.
4. McDermid HE. 1998. Personal communication.
5. Veall RM, Rundle AT, Chitham RC, Saldana-Garcia PA profoundly mentally handicapped woman with a ring chromosome 22. J Ment Defic Res 1975; 19:225-43.
6. Hunter AG, Ray M, Wang HS, Thompson DR. Phenotypic correlations in patients with ring chromosome 22. Clin Genet 1977; 12:239-49.
7. Teyssier M, Moreau N. Familial transmission of deleted chromosome 22 [r(22)pO?] in two normal women. Ann Genet 1985; 2:116-8.
8. Gustavson KH, Arancibia W, Eriksson U, Svennerholm L. Deleted ring chromosome 22 in a mentally retarded boy. Clin Genet 1986; 29:337-41.
9. Yong YP, Knight LA, Yong MH, Ho LY. Partial monosomy for chromosome 22 in a girl with mental retardation. Singapore Med J 1997; 38:85-6.
10. Doheny KF, McDermid HE, Harum K, Thomas GH, Raymond GV. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients. J Med Genet 1997; 34:640-4.