FAMILIAL COMPLEX TRANSLOCATION INVOLVING CHROMOSOMES 1,4,9,20
Vazharova R1, Stoyanova V2, Ghenev E2, Toncheva D1
*Corresponding Author: Toncheva D. Department of Medical Genetics, Medical University Sofia, 2 Zdrave str, 1431 Sofia, Bulgaria Tel/Fax: + 359 2 9520357 email: draga@spnet.net
page: 41

REFERENCES

1. Kleczkowska A, Fryns J P and Van Den Berghe H Complex chromosomal rearrangements/CCR/ and their genetic consequences. J. Genet. Hum., 1982,vol30, No 3, p.199-214.

2. Kousseff B G, Nichols P, Essig Y, Karen M, Weiss A and Tedesco T A Complex chromosomal rearrangements and congenital anomalies. Am J Med Genetics 1987 26: 771-782.

3. Madan K, Nieuwint A W M, van Bever Y Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum genet 1997 99: 806-815.

4. Handmarker Sd, Phil D, Hall BD, Conte FA A new recognizable syndrome associated with a chromosomal abnormality. In: Bergsma D/ed/ New chromosomal and malformation syndromes, vol5, Symposia Specialists for the National Foundation-March of Dimes, BD: OAS XI, Miami, pp181-189.

5. Biijsma J B, France H F de, Bleeker-Wagemaker L M, Dijkstra P F, Double translocation t(7;12),t(2;6) heterozygoty in one family. Hum Genet 1978; 40: 135-147.

6. Bass H N, Sparkes R S: Two balanced translocations in three generations of a pedigree t(7;10)(q11;q22) and t(14;21)(14qter>cen>21qter). J Med Genet 1979; 16: 215-218.

7. Chandley A C, Edmond P, Christie S et al. Cytogenetics and man infertility in man. Ann Hum Genet 1972; 39: 231-54.

8. Josef A, Thomas IM A complex rearrangement involving three autosomes in a phenotipically normal male presenting with sterility. J Med Genet 1982 19: 375-7.

9. Rodriquez MT, Martin MJ, Abrisqueta JA A complex balanced rearrangement involving four chromosomes in an azoospermic man. J Med Genet 1985 22: 66-67.

10. Saadalah N, Hulten M A complex three breakpoints translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility. Hum Genet 1985 71: 312-320.

11. Grouchy J de, Finaz C, Roubin M et Roy J Deux translocations familiales survenue ensemble chez chacune de deux soeurs, l,une equilibree, l,autre trisomique partielle 10q. Ann Genet 1972; 15: 85-92.

12. Meer B, Wolff G and Back E Segregation of a complex rearrangement of chromosomes 6,7,8 and 12 through three generations. Hum Genetics 1981 58: 221-225.

13. Van der Burgt CJAM, Merkx GFM, Janssen AH, Mulder JC, Suijkerbuijk RF Smeets DFCM Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. J Med Genet 1992 29: 739-741.

14.Gorski J L, Kistenmacher M L, Punnett H H, Zackai E H, Emanuel B S Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am J Med Genet 1988 29: 247-261.

15. Kim HJ, Perle MA, Bogosian V, Greco A. Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes. Prenat Diagn 1986 May-Jun 6(3): 211-6.

16. Sikkema-Raddatz B, Sijmons RH, Tan-Sindhunata MB, Van der Veen AY, Brunsting R, De Vries B, Beekhuis JR, Bekedam DJ, Van Aken B, De Jong B Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case. Prenat Diagn 1995 15: 467-473.

17. Mercier S, Fellmann F, Cattin J, Bresson JL Molecular analysis by fluorescence in situ hybridization of a prenatally detected de novo complex chromosomal rearrangement t(2q;3p;4q;13q). Prenat Diagn 1996 16: 1046-50.

18. ISCN(1995) An international system for Human Cytogenetic nomenclature. Mitelman F(ed) 1995 Karger, Basel.

19. Phelan MC, Blackburn W, Rogers RC, Crawford EC, Cooley NR Jr, Schrock E, Ning Y, Ried T FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16. Prenat Diagn 1998 Nov 18(11): 1174-80.

20. Lee MH, Park SY, Kim YM, Kim JM, Han JY, Kim MY, Ryu HM Prenatal diagnosis of a familial complex chromosomal rearrangement involving chromosomes 5, 10, 16 and 18. Prenat Diagn 2002 Feb 22(2): 102-4.

 




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