Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts

American Journal of Medical Genetics, Part A

Volumn 149, Issue 8, 2009, Pages 1706-1711

  Iwarsson, Erik ^a   Sahlén, Sigrid ^a   Nordgren, Ann ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Infertility; Jumping translocation; Robertsonian translocation; Spermatozoa; Trisomy 13

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CELL CULTURE; CELL LINE; CELL NUCLEUS; CENTROMERE; CHROMOSOME 13; CHROMOSOME ABERRATION; CLINICAL FEATURE; CYTOGENETICS; FIBROBLAST; FLUORESCENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE TRANSLOCATION; HIGH RISK PATIENT; HUMAN; JUMPING TRANSLOCATION; KARYOTYPE; KARYOTYPE 46,XY; KARYOTYPING; LYMPHOCYTE; MALE; MEIOSIS; MOSAICISM; OLIGOSPERMIA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGENY; RECURRENT DISEASE; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SPERMATOZOON; TRISOMY 13;

CELL NUCLEUS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 15; DNA; FIBROBLASTS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LYMPHOCYTES; MALE; MEIOSIS; MOSAICISM; PHENOTYPE; POLYMERASE CHAIN REACTION; SPERMATOZOA; TRANSLOCATION, GENETIC; YOUNG ADULT;

ROBERTSONIA;

EID: 68049093005     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32984     Document Type: Article

References (33)

1. Al-Awadi SA, Naguib KK, Teebi AS, Sundareshan TS. 1986. De novo partial monosomy 21 with unusual karyotype. Jinrui Idengaku Zasshi 31:45-48.
2. Anderson CE, Shulkin JD, Mohandas T. 1979. Mosaicism for trisomy 13 with 13/13 translocation and balanced 13/21 translocation in a patient with 13p-. Am J Hum Genet 31:87A.
3. Aslan H, Karaman B, Yildirim G, Ceylan Y. 2005. Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings. Prenat Diagn 25:1024-1027. (Pubitemid 41745681)
4. Atkins L, Bartsocas CS. 1974. Down's syndrome associated with two Robertsonian translocations, 45, XX,-15,-21, + t(15q21q) and 46,XX,- 21, + t(21q21q). J Med Genet 11:306-309.
5. Bandyopadhyay R, McCaskill C, Knox-Du Bois C, Zhou Y, Berend SA, Bijlsma E, Shaffer LG. 2003. Mosaicism in a patient with Downsyndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome. Am J Med Genet Part A 116A:159-163. (Pubitemid 36043387)
6. Berend SA, Canun S, McCaskill C, Page SL, Shaffer LG. 1998. Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation. Am J Med Genet 80:252-259. (Pubitemid 28533538)
7. Clarke MJ, Thomson DA, Griffiths MJ, Bissenden JG, Aukett A, Watt JL. 1989. An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations. J Med Genet 26:198-201. (Pubitemid 19078710)
8. Gray BA, Bent-Williams A, Wadsworth J, Maiese RL, Bhatia A, Zori RT. 1997. Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non- Hodgkin lymphoma. Cancer Genet Cytogenet 98:20-27. (Pubitemid 27400848)
9. Greenberg F, Elder FF, Ledbetter DH. 1987. Neonatal diagnosis of Prader- Willi syndrome and its implications. Am J Med Genet 28:845-856. (Pubitemid 17163755)
10. Gross SJ, Tharapel AT, Phillips OP, Shulman LP, Pivnick EK, Park VM. 1996. A jumping Robertsonian translocation: A molecular and cytogenetic study. Hum Genet 98:291-296.
11. HopmanAH, Ramaekers FC, Raap AK, Beck JL, Devilee P, van der PloegM, Vooijs GP. 1988. In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors. Histochemistry 89: 307-316.
12. Leal-Garza CH, Cortes-Gutierrez EI, Ortiz-Jalomo R, Garcia-Cavazos R. 1996. A case of mosaic Down's syndrome with two Robertsonian translocations. Rev Invest Clin 48:385-388. (Pubitemid 126511834)
13. Lefort G, Blanchet P, ChazeAM,Girardet A, Sarda P, Demaille J, Pellestor F. 2001. Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation. J Med Genet 38:67-73. (Pubitemid 32102329)
14. Lejeune J, Maunoury C, Prieur M, Van den Akker J. 1979. A jumping translocation (5p;15q), (8q;15q), and (12q;15q). Ann Genet 22:210-213.
15. Lieber E, Shah P. 1982. Two Robertsonian translocations in a boy with mental retardation. J Med Genet 19:229-232. (Pubitemid 12074265)
16. MannK, Donaghue C, Fox SP, Docherty Z, Ogilvie CM. 2004. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 12:907-915. (Pubitemid 39462124)
17. Moradkhani K, Puechberty J, Bhatt S, Lespinasse J, Vago P, Lefort G, Sarda P, Hamamah S, Pellestor F. 2006. Rare Robertsonian translocations and meiotic behaviour: Sperm FISH analysis of t(13;15) and t(14;15) translocations: A case report. Hum Reprod 21:3193-3198. (Pubitemid 44811623)
18. Ogur G, Van Assche E, Vegetti W, Verheyen G, Tournaye H, Bonduelle M, Van Steirteghem A, Liebaers I. 2006. Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod 12:209-215.
19. Page SL, Shaffer LG. 1997. Nonhomologous Robertsonian translocations form predominantly during female meiosis. Nat Genet 15:231-232.
20. Park VM, Gustashaw KM, Wathen TM. 1992. The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. Am J Hum Genet 50:914-923.
21. Petit P, Devriendt K, Vermeesch JR, De Cock P, Fryns JP. 1998. Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. Ann Genet 41:22-26. (Pubitemid 28185040)
22. Reddy KS, Murphy T. 2000. Fusion of 9 beta-satellite and telomere (TTAGGG)n sequences results in a jumping translocation. Hum Genet 107:268-275. (Pubitemid 30767518)
23. Rivera H, Zuffardi O, Gargantini L. 1990. Nonreciprocal and jumping translocations of 15q1-qter in Prader-Willi syndrome. Am J Med Genet 37:311-317. (Pubitemid 20367539)
24. Rives N, Ravel C, Duchesne V, Siffroi JP, Mousset-Simeon N, Mace B. 2005. Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier. J Hum Genet 50:360-364. (Pubitemid 41206929)
25. Sala E, Villa N, Riva P, Varisco T, Larizza L, Dalpra L. 2002. Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child. J Med Genet 39:e42.
26. Sawyer JR, Tricot G, Mattox S, Jagannath S, Barlogie B. 1998. Jumping translocations of chromosome 1q in multiple myeloma: Evidence for a mechanism involving decondensation of pericentromeric heterochromatin. Blood 91:1732-1741. (Pubitemid 28110339)
27. Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K, Lupski JR. 2003. The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3. Cytogenet Genome Res 101:118-123. (Pubitemid 37456616)
28. Tharapel AT, Redheendran R, Mankinen CB, Kukolich MK. 1984. Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,- +t(21q;21q) rearrangement. J Med Genet 21:391-395. (Pubitemid 14049050)
29. Vianna-Morgante AM, Nunesmaia HG. 1978. Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q). J Med Genet 15:305-310.
30. von Ballestrem CL, Boavida MG, Zuther C, Carreiro MH, David D, Gal A, Schwinger E. 1996. Jumping translocation in a phenotypically normal female. Clin Genet 49:156-159. (Pubitemid 26147713)
31. Wells S, Gregson N, Porter RJ. 1991. A case of mosaicism involving an unstable 13/14 Robertsonian translocation. Prenat Diagn 11:875-880.
32. Zahed L, Oreibi G, Azar C, Salti I. 2004. Ringchromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism. Am J Med Genet Part A 129A:25-28. (Pubitemid 38989039)
33. Zellweger H, Abbo G. 1965. Familial mosaicism attributable to a new gene. Lancet 1:455-457.