Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p 13q34) karyotype

American Journal of Medical Genetics

Volumn 129 A, Issue 3, 2004, Pages 316-320

  Bedoyan, Jirair K ^a   Flore, Leigh Anne ^a,c   Alkatib, Aziz ^b   Ebrahim, Salah A ^b   Bawle, Erawati V ^a  

^a CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MICHIGAN STATE UNIVERSITY   (United States)

Author keywords

Familial; FISH, telomeres; Malformations; Mental retardation; Ring chromosome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 13; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION 13; FACE DYSMORPHIA; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; GROWTH RETARDATION; HAND MALFORMATION; HUMAN; HYPERPIGMENTATION; KARYOTYPE 46,XX; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MOTOR PERFORMANCE; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; SPEECH DISORDER; TELOMERE;

AFRICAN AMERICANS; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; HYPERPIGMENTATION; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PEDIGREE; PHENOTYPE; RING CHROMOSOMES;

EID: 4444284635     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30242     Document Type: Article

References (24)

1. Brandt CA, Hertz JM, Petersen MB, Vogel F, Noer H, Mikkelsen M. 1992. Ring chromosome 13: Lack of distinct syndromes based on different breakpoints on 13q. J Med Genet 29:704-708.
2. Brown S, Russo J, Chitayat D, Warburton D. 1995. The 13q - syndrome: The molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 57:859-866.
3. Cote GB, Katsantoni A, Deligeorgis D. 1981. The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet 24:231-235.
4. Dallapiccola B, De Filippis V, Notarangelo A, Perla G, Zelante L. 1986. Ring chromosome 21 in healthy persons: Different consequences in females and in males. Hum Genet 73:218-220.
5. Gardner RJM, Sutherland GR. 1996. Chromosome abnormalities and genetic counseling. New York: Oxford University Press. pp 177-181.
6. Gardner RJ, Monk NA, Clarkson JE, Allen GJ. 1986. Ring 21 chromosome: The mild end of the phenotypic spectrum. Clin Genet 30:466-470.
7. Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C. 1997. Ring chromosome 13 with loss of the region D13S317-D13S285: Phenotypic overlap with XK syndrome. Am J Med Genet 72:319-323.
8. Kosztolanyi G. 1987. Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 75:174-179.
9. Kosztolanyi G, Mehes K, Hook EB. 1991. Inherited ring chromosomes: An analysis of published cases. Hum Genet 87:320-324.
10. Lejeune J, Lafourcade J, Berger R, Cruveiller J, Rethore MO, Dutrillaux B, Abonyi D, Jerome H. 1968. The Dr phenotype: A study of three cases with a ring D chromosome. Ann Genet 11:79-87.
11. Lowry RB, Dill FJ. 1977. Ring 13 chromosome associated with microcephaly, congenital heart defect, intrauterine growth retardation, and abnormal skin pigmentation. Birth Defects Orig Artic Ser 13:216-222.
12. MacDermot KD, Jack E, Cooke A, Turleau C, Lindenbaum RH, Pearson J, Patel C, Barnes PM, Portch J, Crawfurd MD. 1990. Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks. Hum Genet 85:516-520.
13. Martin NJ, Harvey PJ, Pearn JH. 1982. The ring chromosome 13 syndrome. Hum Genet 61:18-23.
14. McCorquodale MM, Kolacki P, Kurczynski TW, Baugh E. 1986. Tissue-specific mosaicism for the stability of a ring 13 chromosome. J Ment Defic Res 30:389-399.
15. McGinniss MJ, Kazazian HH Jr, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z, et al. 1992. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet 50:15-28.
16. Morrissette JD, Celle L, Owens NL, Shields CL, Zackai EH, Spinner NB. 2001. Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere. Am J Med Genet 99:21-28.
17. Niebuhr E, Ottosen J. 1973. Ring chromosome D (13) associated with multiple congenital malformations. Ann Genet 16:157-166.
18. Noel B, Quack B, Rethore MO. 1976. Partial deletion and trisomies of Chromosome 13: Mapping of bands associated with particular malformations. Clin Genet 9:593-602.
19. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, Fogu G, Zuffardi O. 1993. Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet 92:23-27.
20. Riley SB, Buckton KE, Ratcliffe SG, Syme J. 1981. Inheritance of a ring 14 chromosome. J Med Genet 18:209-213.
21. Teyssier M, Moreau N. 1985. Familial transmission of deleted chromosome 22 [r(22)p0?] in two normal women. Ann Genet 28:116-118.
22. Tommerup N, Lothe R. 1992. Constitutional ring chromosomes and tumour suppressor genes. J Med Genet 29:879-882.
23. Voullaire LE, Petrovic V, Sheffield LJ, Campbell P. 1991. Two forms of ring 13 in a child with rhabdomyosarcoma. Am J Med Genet 39:285-287.
24. Watt JL, Steven GS. 1986. Human genetics: A practical approach. In: Rooney DE, Czepulkonski BH, editors. Lymphocyte culture for chromosome analysis. Washington, DC: IRL Press. pp 39-55.