CARRIERS OF CHROMOSOME TRANSLOCATIONS FROM THREE MEN WITH AZOOSPERMIA

Year 2019, , 145 - 150, 27.08.2019

Gülbahar Güzel Erdal , Mahmut Balkan

https://doi.org/10.23884/ijhsrp.2019.4.2.08

Abstract

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

Supporting Institution

Dicle University Research Fund DUBAP, Project No. TIP.18.036.

Project Number

TIP.18.036

References

• 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