Ring chromosome 9 [r(9)(p24q34)]: A report of two cases

American Journal of Medical Genetics

Volumn 138 A, Issue 3, 2005, Pages 229-235

  Purandare, Smita M ^a   Lee, Jiyun ^a   Hassed, Susan ^a   Steele, Marilyn I ^a   Blackett, Piers R ^a   Mulvihill, John J ^a,b   Li, Shibo ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b Children's Hospital Oklahoma City   (United States)

Author keywords

FISH; Phenotype genotype correlation; r(9)

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOMAL INSTABILITY; CHROMOSOME 9; CHROMOSOME 9P; CHROMOSOME 9Q; CHROMOSOME BANDING PATTERN; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL FEATURE; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE INTERACTION; GENE PROBE; HUMAN; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME;

ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 9; CRANIOFACIAL ABNORMALITIES; FEMALE; HEARING LOSS; HUMANS; HYPERTENSION, PULMONARY; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; RING CHROMOSOMES; SCOLIOSIS;

EID: 25644443277     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30382     Document Type: Article

References (32)

1. Alfi OS, Donnell GN, Crandall BF, Derencsenyi A, Mennon R. 1973. Deletion of the short arm of chromosome 9 (46 9p-): A new deletion syndrome. Ann Genet 16:17-22.
2. Cavaliere ML, Rinaldi MM, Castelluccio P, Cioffi C, Vendemmia M, Vendemmia S. 1977. Phenotypic variability in the chromosome 9 ring. Acta Biomed Ateneo Parmense 68:85-89.
3. Cote GB, Katsantoni A, Deligeorgis D. 1981. The cytogenetic and clinical implication of a ring chromosome 2. Ann Genet 24:231-235.
4. Diperri JE, Matayoshi T. 1982. Ring chromosome 9: Identification of a new case by G and C banding. Ann Genet 25:243-245.
5. Fraisse J, Lauras B, Ooghe MJ, Freycon F, Rethore MO. 1974. A case of annular chromosome 9. Identification by controlled denaturation. Ann Genet 17:175-180.
6. Fryns JP, Lambrechts A, Jansseune H, Van den Berghe H. 1979. Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9. Hum Genet 50:29-32.
7. Hess RO, Meisner LF. 1987. Apparent Prader-Willi phenotype in a woman with ring chromosome 9. Am J Med Genet 3:133-138.
8. Huret JL, Leonard C, Forestier B, Rethore MO, Lejeune J. 1988. Eleven new cases of del 9p and features from 80 cases. J Med Genet 25:471-479.
9. Inouye T, Matsuda H, Shimura K, Hamazaki M, Kikuta I, Iinuma K, Nakagome Y. 1979. A ring chromosome 9 in an infant with malformations. Hum Genet 50:231-235.
10. Jacobsen P, Mikkelsen M, Rosleff F. 1973. A ring chromosome, diagnosed by quinacrine fluorescence as no. 9 in a mentally retarded girl. Clin Genet 4:434-441.
11. Kasa N, Kasai R. 1988. A patient with ring 9 chromosome 46X,Y r(9)(p24.1q34.3). Acta Pediatr Jpn 30:710-713.
12. Kistenmacher ML, Punnett HH, Aronson M, Miller RC, Greene AE, Coriell LL. 1975. A ring 9 chromosome. Repository identification no. GM-166. Cytogenet Cell Genet 15:122-123.
13. Kontiokari T, Borgstrom GH, Ritanen-Mohammed UM. 1995. Ring chromosome 9. Duodecim 111:439-441.
14. Kosztolanyi G. 1987. Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 75:174-179.
15. Lanzi G, Fazzi E, Veggiotti P, Pagliano E, Gariglio M, Bonaglia C, Landolfo S. 1996. Ring chromosome 9: An atypical case. Brain Dev 18:216-219.
16. Leung AK, Rudd NL. 1988a. A case of ring (9)/del (9p) mosaicism associated with gastroesophageal reflux. Am J Med Genet 29:43-48.
17. Leung AK, McLeod DR, Nudd NL. 1988b. Metacarpophalangeal pattern profile analysis in a patient with ring (9)/del (9p) mosaicism. Am J Med Genet 31:481-482.
18. Manouvrier-Hanu S, Turck D, Gottrand F, Savary JB, Loeuille GA, Deminatti MM, Farriaux JP. 1988. Ring chromosome 9. Case report and review of the literature. Ann Genet 31:250-253.
19. Manouvrier-Hanu S, Turck D, Farriaux JP. 1989. Another case of ring chromosome 9 associated with gastroesophageal reflux. Am J Med Genet 32:558.
20. Metaxotou-Stavridaki C, Kalpini-Mavrou A. 1977. Ring chromosome 9 46,XYr(9) in a male with ambiguous external genitalia. Hum Genet 37:351-354.
21. Nakajima S, Yanagisawa M, Kamoshita S, Nakagome Y. 1976. Mental retardation and congenital malformations associated with ring chromosome 9. Hum Genet 32:289-293.
22. Newton MS, Cunnigham C, Jacobs PA, Price WH, Fraser IA. 1972. Chromosome survey of a hospital for the mentally subnormal. 2. Autosome abnormalities. Clin Genet 3:226-248.
23. Pfeiffer RA, Trautmann U, Hirmer-Stoll R. 1991. Interstitial deletion of chromosome 9q with co-existence of the deleted segment as a ring chromosome. A case report. Ann Genet 34:247-251.
24. Portnoi MF, van den Akker J, Le Porrier N, Joye N, Youssef S, Taillemite JL. 1982. A new case of ring chromosome 9. Ann Genet 25:164-167.
25. Raymond CS, Kettlewell JR, Hirsch B, Bardwell VJ, Zarkower D. 1999. Expression of Dmrt1 in the genital ridge of mouse and chicken embryos suggests a role in vertebrate sexual development. Dev Biol 215:208-220.
26. Seabright M. 1971. A rapid banding technique for human chromosomes. Lancet 2:971-972.
27. Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L. 1999. Ring chromosome 9 with a 9p22.3-p24.3 duplication. Eur J Pediatr 158:791-793.
28. Shan Z, Zabel B, Trautmann U, Hillig U, Ottolenghi C, Wan Y, Haaf T. 2000. FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. Eur J Hum Genet 8:167-173.
29. Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT. 1999. Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "Complete Ring" syndrome. Am J Med Genet 87:384-390.
30. Stumm M, Kessel-Weiner E, Pascu F, Ottolenghi C, Theile U, Wieacker PF. 2000. Deletion of the DM-domain gene cluster in a fetus with ring chromosome 9 and sex reversal. Pediat Pathol Mol Med 19:415-423.
31. Van Maldergem L, Avni F, Mossay B, Herens C, Verloes A, Gillerot Y. 1991. Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias, and skeletal abnormalities. Genet Couns 2:123-127.
32. Zuffardi O, Danesino C, Poloni L, Pavesi F, Bianchi C, Gargantini L. 1980. Ring chromosome 12 and latent centromeres. Cytogenet Cell Genet 28:151-157.