THE LARGEST PARACENTRIC INVERSION, THE HIGHEST RATE OF RECOMBINANT SPERMATOZOA. CASE REPORT: 46,XY, inv(2)(q21.2q37.3) AND LITERATURE REVIEW
Yapan CC, Beyazyurek C, Ekmekci CG, Kahraman S
*Corresponding Author: Cigdem Cinar Yapan, MSc., Reproductive Genetics Laboratory, Istanbul Memorial Hospital, Piyalepasa Street, 34385 Sisli, Istanbul, Turkey. Tel.: +90-212-314-6666. Fax: +90-212-314-6657. E-mail: cigdemcinar78@gmail.com
page: 55

REFERENCES

1. Fryns JP, van den Berghe H. Paracentric inversion in man: personal experience and review of the literature. Hum Genet. 1980; 54(3): 413-416. 2. Hook EB, Schreinemachers DM, Willey AM, Cross PK. Inherited structural cytogenetic abnormalities detected incidentally in fetuses diagnosed prenatally: frequency, parental-age associations, sex-ratio trends and comparisons with rates of mutants. Am J Hum Genet. 1984; 36(2): 422-443. 3. Therman E. Human Chromosomes, Structure, Behavior, Effects. New York, NY: Springer- Verlag, 1980. 4. Munné S. Preimplantation genetic diagnosis of structural abnormalities. Mol Cell Endocrinol. 2001; 183 (Suppl 1): S55-S58. 5. Worsham MJ, Miller DA, Devries JM, Mitchell AR, Babu VR, Surli V, et al. A dicentric recombinant 9 derived from a paracentric inversion: Phenotype, cytogenetics, and molecular analysis of centromeres. Am J Hum Genet. 1989; 44(1): 115-123. 6. Phelan MC, Stevenson RE, Anderson EV Jr. Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop. Am J Med Genet. 1993; 46(3): 304-308. 7. Lefort G, Blanchet P, Belgrade N, Rivier F, Chaze AM, Sarda P, et al. Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion. Am J Med Genet A. 2003; 118A(2): 333-338. 8. Madan K. Paracentric inversions: A review. Hum Genet. 1995; 96(5): 503-515. 9. Madan K, Nieuwint AW. Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion? That is the question. Am J Med Genet. 2002; 107(4): 340-343. 10. Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Manvelyan M, Hunstig F, et al. Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions. Eur J Hum Genet. 2009; 17(1): 44-50. 11. Martin RH. Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 7 (q11q22). Hum Genet. 1986; 73(2): 97-100. 12. Brown GM, Leversha M, Hulten M, Ferguson- Smith MA, Affara NA, Furlong RA. Genetic analysis of meiotic recombination in humans by use of sperm typing: Reduced recombination within a heterozygous paracentric inversion of chromosome 9q32-q34.3. Am J Hum Genet. 1998; 62(6): 1484-1492. 13. Martin RH. Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 14 (q24.1q32.1). Am J Hum Genet. 1999; 64(5): 1480-1484. 14. Devine DH, Whitman-Elia G, Best RG, Edwards JG. Paternal paracentric inversion of chromosome 2: A possible association with recurrent pregnancy loss and infertility. J Assist Reprod Genet. 2000; 17(5): 293-296. 15. Anton E, Vidal F, Egozcue J, Blanco J. Genetic reproductive risk in inversion carriers. Fertil Steril. 2006; 85(3): 661-666. 16. Vialard F, Delanete A, Clement P, Simon-Bouy B, Aubriot FX, Selva J. Sperm chromosome analysis in two cases of paracentric inversion. Fertil Steril. 2007; 87(2): 418.e1-418.e5. 17. Kahraman S, Findikli N, Biricik A, Oncu N, Ogur C, Sertyel S, et al. Preliminary FISH studies on spermatozoa and embryos in patients with variable degrees of teratozoospermia and a history of poor prognosis. Reprod Biomed Online. 2006; 12(6): 752-761. 18. Martin RH, Rademaker A. Reliability of aneuploidy estimates in human sperm: Results of fluorescence in situ hybridization studies using two different scoring criteria. Mol Reprod. 1995; 42(1): 89-93. 19. Findikli N, Kahraman S, Kumtepe Y, Donmez E, Biricik A, Sertyel S, et al. Embryo devel opment characteristics in Robertsonian and reciprocal translocations: a comparison of results with non-translocation cases. Reprod Biomed Online. 2003; 7(5): 563-571. 20. Palermo G, Joris H, Devroey P, van Steirteghem AC. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet. 1992; 340(8810): 17-18. 21. Greger V, Knoll JH, Wagstaff J, Woolf E, Lieske P, Glatt H, et al. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Hum Genet. 1997; 60(3): 574-580. 22. Saito-Ohara F, Fukuda Y, Ito M, Agarwala KL, Hayashi M, Matsuo M, et al. The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am J Hum Genet. 2002; 71(3): 637-645. 23. Anton E, Blanco J, Egozcue J, Vidal F. Sperm studies in heterozygote inversion carriers: A review. Cytogenet Genome Res. 2005; 111(3-4): 297-304. 24. Morel F, Laudier B, Guérif F, Couet ML, Royère D, Roux C, et al. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod. 2007; 22(1): 136-141. 25. Bhatt SS, Manvelyan M, Moradkhani K, Hunstig F, Mrasek K, Puechberty J, et al. Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis. Cytogenet Genome Res. 2014; 142(2): 145-149. 26. Batanian J, Hulten MA. Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1) (p32q42). Regular loop formation but defective synapsis including a possible interchromosomal effect. Hum Genet. 1987; 76(1): 81-89. 27. Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod. 2011; 26(7): 1925-1935. 28. Boklage CE. Survival probability of human conceptions from fertilization to term. Int J Fertil. 1990; 35 (2): 75, 79-80, 81-94. 29. Schmid M, Hofmann R, Köhler J, Jannek U. Familial paracentric inversion: inv(2)(q31q36). Hum Genet. 1985; 71(3): 270-272. 30. Donti E, Rosetti A, Carloni I, Venti Donti G. A new case of familial paracentric inversion of chromosome 2. Hum Genet. 1987; 75(2): 195. 31. Lin CC, Bowen P, Hoo JJ. Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities. Hum Genet. 1987; 75(1): 84-87.



Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006