Investigation of balanced chromosomal aberrations prevalence in healthy Turkish Cypriot couples

Abstract

Chromosomal abnormalities play a significant role in reproductive issues and developmental disorders, yet information on their prevalence within the Turkish Cypriot population is limited. This study offers the first comprehensive cytogenetic evaluation of balanced chromosomal aberrations in 100 healthy Turkish Cypriot individuals of reproductive age. Structural abnormalities were detected in 4 % of participants, all of whom were female, including inversions, insertions, balanced translocations, and a derivative chromosome 22. The frequency of balanced translocations in this group was higher than global averages, highlighting important reproductive considerations for carriers. The observed sex-specific difference points to a complex interplay of genetic and epigenetic factors influencing chromosomal variation. To achieve accurate diagnosis and effective management, advanced molecular cytogenetic methods should be used alongside traditional karyotyping. Larger studies, especially those including male subjects, are needed to confirm these results and improve genetic counseling, risk assessment, and fertility treatment approaches tailored to this distinct population.

Keywords

Chromosomal abnormalities / Karyotyping / Cytogenetic analysis / Balanced translocations / Turkish Cypriot population

Funding

There is no funding for this study.

Data availability

The data is available upon request.

Declaration of Competing Interest

The authors do not have any conflict of interest to declare.

References

[1] J.L. Gerton, A working model for the formation of robertsonian chromosomes, J. Cell Sci. 137 (7) (2024), https://doi.org/10.1242/jcs.261912.

[2] T. Hassold, P. Hunt, To err (meiotically) is human: the genesis of human aneuploidy, Nat. Rev. Genet. 2 (4) (2001) 280-291, https://doi.org/10.1038/35066065.

[3] I. Jerkovic´, G. Cavalli,Understanding 3D genome organization by multidisciplinary methods, Nat. Rev. Mol. Cell Biol. 22 (8) (2021) 511-528, https://doi.org/10.1038/s41580-021-00362-w.

[4] K.O. Kagan, J. Sonek, P. Kozlowski, Antenatal screening for chromosomal abnormalities, Arch. Gynecol. Obstet. 305 (4) (2022) 825-835, https://doi.org/10.1007/s00404-022-06477-5.

[5] N.V. Kovaleva, Sex-specific chromosome instability in early human development, Am. J. Med. Genet. 136 A (4) (2005) 401-413, https://doi.org/10.1002/ajmg.

[6] K. Kowalczyk, M. Smyk, M. Bartnik-Głaska, I. Plaskota, B. Wiśniowiecka-Kowalnik, J. Bernaciak, M. Chojnacka, M. Paczkowska, M. Niemiec, D. Dutkiewicz, A. Kozar, R. Magdziak, W. Krawczyk, G. Pietras, E. Michalak, T. Klepacka, E. Obersztyn, J. Bal, B.A. Nowakowska, Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss, J. Assist. Reprod. Genet. 39 (2) (2022) 357-367, https://doi. org/10.1007/s10815-022-02400-8.

[7] K. Madan, Balanced structural changes involving the human X: effect on sexual phenotype, Hum. Genet. 63 (3) (1983) 216-221, https://doi.org/10.1007/BF00284652.

[8] T. Misteli, Beyond the sequence: cellular organization of genome function, Cell 128 (4) (2007) 787-800, https://doi.org/10.1016/j.cell.2007.01.028.

[9] S.J. Morin, J. Eccles, A. Iturriaga, R.S. Zimmerman, Translocations, inversions and other chromosome rearrangements, Fertil. Steril. 107 (1) (2017) 19-26, https://doi.org/10.1016/j.fertnstert.2016.10.013.

[10] S. Mukhopadhyay, S. Dasgupta, K. Ghosh, T. Mukherjee, Investigating the relation between chromosomal polymorphism and recurrent pregnancy loss: a cohort study, Indian J. Obstet. Gynecol. Res. 9 (3) (2022) 391-396, https://doi.org/10.18231/j.ijogr.2022.074.

[11] C.S. Paththinige, N.D. Sirisena, U.G.I.U. Kariyawasam, V.H.W. Dissanayake, The frequency and spectrum of chromosomal translocations in a cohort of Sri Lankans, BioMed. Res. Int. 2019 (2019), https://doi.org/10.1155/2019/9797104.

[12] J.R. Paulson, D.F. Hudson, F. Cisneros-Soberanis, W.C. Earnshaw, Mitotic chromosomes, Semin. Cell Dev. Biol. 117 (April) (2021) 7-29, https://doi.org/10.1016/j.semcdb.2021.03.014.

[13] M. Poot, R. Hochstenbach, Prevalence and phenotypic impact of robertsonian translocations, Mol. Syndromol. 12 (1) (2021) 1-11, https://doi.org/10.1159/000512676.

[14] R. Popescu, M. Grămescu, L. Caba, M.C. Pânzaru, L. Butnariu, E. Braha, S. Popa, C. Rusu, G. Cardos, M. Zeleniuc, V. Martiniuc, C. Gug, L. Păduraru, M. Stamatin, C. C. Diaconu, E.V. Gorduza,A case of inherited t(4;10)(q26;q26.2) chromosomal translocation elucidated by multiple chromosomal and molecular analyses. Case report and review of the literature, Genes 12 (12) (2021) 1-18, https://doi.org/10.3390/genes12121957.

[15] P.K. Priya, V.V. Mishra, P. Roy, H. Patel, A study on balanced chromosomal translocations in couples with recurrent pregnancy loss, J. Hum. Reprod. Sci. 11 (4) (2018) 337-342, https://doi.org/10.4103/jhrs.JHRS_132_17.

[16] M.S.B. Ralapanawe, S.L. Gajaweera, N. Karunaratne, M.J. Price, P. Melo, A. Coomarasamy, I. Gallos, Chromosomal polymorphisms in assisted reproduction: an analysis of 942 cycles, Reprod. Fertil. 3 (3) (2022) 133-139, https://doi.org/10.1530/RAF-21-0116.

[17] D. Serapinas, E. Valantinavičienė, E. Machtejevienė, A. Bartkevičiūtė, D. Bartkevičienė,Evaluation of chromosomal structural anomalies in fertility disorders, Med. (Lith.) 57 (1) (2021) 1-9, https://doi.org/10.3390/medicina57010037.

[18] H.O. Smail, The roles of the fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) techniques in the detection of the breast cancer, Biol. Med. Nat. Prod. Chem. 11 (1) (2022) 45-54, https://doi.org/10.14421/biomedich.2022.111.45-54.

[19] R.M. Winter, Estimation of Male to female ratio of mutation rates from carrier-detection tests in X-linked disorders, Am. J. Hum. Genet. 32 (4) (1980) 582-588.

[20] T.O. Yahaya, E.O. Oladele, D. Anyebe, C. Obi, M.D.A. Bunza, R. Sulaiman, U.U. Liman, Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review, Bull. Natl. Res. Cent. 45 (1) (2021), https://doi.org/10.1186/s42269-021-00523-z.

[21] C. Yang, T. Li, Q. Dong, Y. Zhao,Chromosome classification via deep learning and its application to patients with structural abnormalities of chromosomes, Med. Eng. Phys. 121 (October) (2023) 104064, https://doi.org/10.1016/j.medengphy.2023.104064.

[22] F. Zhang, C.M.B. Carvalho, J.R. Lupski, Complex human chromosomal and genomic rearrangements, Trends Genet. 25 (7) (2009) 298-307, https://doi.org/10.1016/j.tig.2009.05.005.