CARRIERS OF CHROMOSOME TRANSLOCATIONS FROM THREE MEN WITH AZOOSPERMIA

Male infertility is liable for half of the genetic infertility cases. Robertsonian and Reciprocal translocations are the major chromosomal rearrangements in the infertile population. In this study, we aimed to submit a Robertsonian and two Reciprocal translocations in three couples with a history of male infertility with azoospermia. Chromosomal analysis of the one couple in the male partner appeared with an abnormal karyotype with 45, XY, rob (13,14) chromosomal constitution, while the female partner revealed normal 46, XX karyotype. The other two couple revealed in the male partner with reciprocal translocations, while the female partners showed normal 46, XX karyotype; one of infertile males has karyotype with 46,XY, rcp (19:10), and other infertile male with 46,XY,rcp(6:14) chromosomal constitution. The cytogenetic analysis is mandatory to identify any probable chromosomal anomalies for couples with primer infertility. Couples with repeated abortions should be offered prenatal diagnosis in the case of future pregnancies. Chromosome translocation carriers should be counseled to use advanced technologies such as assisted reproductive technology such as PGD.

Keywords:

male infertility, chromosome abnormalities,

PDF

___

1. Vander Borght M, Wyns C.Fertility and infertility: Definition and epidemiology. Clin Biochem. 2018 Dec;62:2-10.
2. Farah Ghieh, Volerie Mit Chell ,Beatrice Mandan-Pepin , Françios Violerd: Genetic defects in human azoospermia. Basic and Clinical Andrology 2019; 29; 43. Estop A.M, Cieply K. and Aston, C.E. The meiotic segregation pattern of a reciprocal translocation t(10;12)(q26.1;p13.3) by fluorescence in situ hybridization sperm analysis. Eur. J. Hum. Genet 1997; 5:78-82
4. VanAssche E, Bonduelle M , Tournaye H , Joris H , Verheyen G , Devroey P, Van Steirteghem A and Liebaers I. Cytogenetics of infertile men. Hum Reprod 1996 Dec;11 Suppl 4:1-24; 25-6
5. Manvelyan M, Schreyer I, Hols-Herpertz I, Kohler S, Niemann R, Hehr U, Belitz B, Bartels I, Gotz J, Huhle D, Kossakiewicz M, TittelbachH, Neubauer S, Polityko A, Mazauric ML, Wegner R, Stumm M, Kupferling P, Suss F, Kunze H, Weise A, Liehr T, Mrasek K: Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints. Int J Mol Med 2007;19:855
6. Robert Lnussbaum, Roderick R.Mclnnes, Huntington F, Willard HF. Thompson ve Thompson Tıbbi Genetik 6.Baskı,Ankara,Güneş Kitabevi.2005;17-32,135-155,157-17
7. Nielsen J, Wohlert M (1991) Chromosome abnormalities found among 3,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 87: 81-83
8. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome Abnormalities and Genetic Counseling. (3rd edn.), Oxford University Press, New York.Nov 2011
9. Nielsen J, Wohlert M (1991) Chromosome abnormalities found among 3,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 87: 81-8310. Egozcue J, Templado C, Vidal F. et al. Meiotic studies in a series of 1100 infertile and sterile males. Hum. Genet 1983; 65: 185–188
11. Retief, A.E. Cytogenetics and recombinant technology in male infertility. Arch. Androl 1986; 17, 119–123
12. VanAssche E, Bonduelle, M. Tournaye, H, Joris H ,Verheyen G, Devroey P, Van Steirteghem A, and Liebaers I. Cytogenetics of infertile men. Hum. Reprod 1996 ; 11, 1-24
13. Morel F1, Roux C, Bresson JL.FISH analysis of the chromosomal status of spermatozoa from three men with 45, XY, der(13;14)(q10;q10) karyotype. Mol Hum Reprod 2001; 7(5):483-8
14. Chandley AC, Christie S, Fletcher J, et al: Translocation heterozygosity and associated subfertility in man. Cytogenetics 1972; 11:516-533