• Ketan K. Vaghasia Supratech Micropath Laboratory and Research Institute
  • Nidhi D. Shah Supratech Micropath Laboratory and Research Institute
  • Parth S. Shah Supratech Micropath Laboratory and Research Institute
  • Vidhi M. Bhatt Supratech Micropath Laboratory and Research Institute
  • Sandip C. Shah Supratech Micropath Laboratory and Research Institute
  • Mandava V. Rao Ex. Director, School of Sciences, Gujarat University, Ahmedabad, Gujarat India


Objective: This study was undertaken to elucidate the role of heteromorphism in causation of reproductive anomalies like infertility.

Methods: In our study, cytogenetic analysis of 830 suspected referral cases of both sexes were assessed using standard karyotypic technique with Giemsa staining from their blood samples. We identified heteromorphism of D/G groups and non-acrocentric chromosomes following WHO nomenclature.

Results: Our data revealed that most of our heteromorphic cases (38;4.58%) were related to p arm satellites (ps+) of the chromosomes and are related to infertility and abortion. No significant gender variation was noticed in this study.

Conclusion: We hence, suggest that heteromorphism is associated with a loss of reproductive function, as heterochromatin may contain genes that regulate cellular roles in reproduction. Further, it becomes important that such cases are considered for molecular studies, genetic counseling and prenatal/pre-implantation screening.

Keywords: Chromosomal Polymorphism, Reproductive Failure, Cytogenetic Analysis. Acrocentric and non-acrocentric groups, Heterochromatin


Download data is not yet available.


13. Karpen G, Endow S. Meiosis: chromosome behaviour and spindle dynamics. In: Endow S, Glover D. editors. Frontiers in Biology. Oxford: Oxford University Press; 1998.
14. Sofia CL, Chinnaswami P, Mahalingam K, Chinnaswamy P. Secondary constriction region variations in individuals with reproductive failure. Int J Life Sci Res 2015;3:40-5.
15. Mierla D, Stoian V. Chromosomal polymorphisms involved in reproductive failure in the romanian population. Balkan J Med Genet 2012;15:23-8.
16. Pokale YS. Does a heterochromatic variant affect the human reproductive outcome? Res J Recent Sci 2015;4:108-13.
17. Daya S. Issues in the etiology of recurrent spontaneous abortion. Curr Opin Obestet Gynecol 1994;6:153-9.
18. Ogata T, Hawkins JR, Taylor A, Matsuo N, Hata J, Goodfellow PN. Sex reversal in a child with a 46,X,Yp+karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. J Med Genet 1992;29:226-30.
19. Hsu LYF, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD. Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. Am J Med Genet 1987;26:95-101.
20. Sheth FJ, Shah UJ, Desai MJ, Sheth JJ. Clinical profile of inversion Y in people of Gujarat, West India. Int J Hum Genet 2011;11:245-8.
21. Hong Y, Zhou YW, Tao J, Wang SX, Zhao XM. Do polymorphic variants of chromosomes affect the outcome of in vitro fertilization and embryo transfer treatment? Hum Reprod 2011;26:933–40.
22. Boronova I, Bernasovska J, Cakanova G, Ferenc P, Petrejcikova E, Szabadosova V. Heterochromatin variants in Slovak women with reproductive failure. Int J Hum Genet 2015;15:1-5.
23. Minocherhomji S, Athalye AS, Madon PF, Kulkarni D, Uttamchandani SA, Parikh FR. A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype. Fertil Steril 2009;92:88-95.
24. Morimoto RI. Regulation of the heat shock transcriptional response: cross talk between a family of heat shock factors, molecular chaperones and negative regulators. Genes Dev 1998;12:3788–96.
25. Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya G, Samue CR. Chromosomal abnormalities in infertile men from southern India. J Clin Diagn Res 2015;9:GC05–GC10.
26. Rizzi N, Denegri M, Chiodi I, Corioni M, Valgardsdottir R, Cobianchi F, et al. Transcriptional activation of a constitutive heterochromatic domain of the human genome in response to heat shock. Mol Biol Cell 2004;15:543–51.
27. Mau UA, Backert IT, Kaiser P, Kiesel L. Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum Reprod 1997;112:930–7.
28. Dong Y, Jiang Y, Du RC, Zhang HG, Li LL, Liu RZ. Impact of chromosomal heteromorphisms on reproductive failure and analysis of 38 heteromorphic pedigrees in Northeast China. J Assist Reprod Genet 2013;30:275–81.
29. Dong Y, Li LL, Wang RX, Yu XW, Yun X, Liu RZ. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms. Genet Mol Res 2014;17:13:2849-56.
1287 Views | 8441 Downloads
How to Cite
Vaghasia, K. K., N. D. Shah, P. S. Shah, V. M. Bhatt, S. C. Shah, and M. V. Rao. “KARYOTYPIC ANALYSIS OF CHROMOSOMAL POLYMORPHISM IN RELATION TO REPRODUCTIVE FAILURE”. International Journal of Pharmacy and Pharmaceutical Sciences, Vol. 9, no. 4, Feb. 2017, pp. 140-3, doi:10.22159/ijpps.2017v9i4.15787.
Original Article(s)