International E-publication: Publish Projects, Dissertation, Theses, Books, Souvenir, Conference Proceeding with ISBN.  International E-Bulletin: Information/News regarding: Academics and Research

Does a Heterochromatic variant affect the Human Reproductive outcome?

Author Affiliations

  • 1 Department of Biotechnology, Shri Jagdishprasad Jhabarmal Tibrewal University, Jhunjhunu, Rajasthan, INDIA
  • 2Department of Cytogenetics, PreventiNe Life Care Pvt Ltd., Mumbai, INDIA

Res. J. Recent Sci., Volume 4, Issue (IYSC-2015), Pages 108-113, September,2 (2015)


To study the association of chromosomal polymorphic variations with recurrent miscarriage. Recurrent miscarriage becomes a problem that affect an increasing number of couples with the frequency of about 1% in the couples who want to conceive. This study is based on comparison of chromosome Heteromorphism in the karyotypes of two groups. The first group with 400 individuals with the history of more than two miscarriages and no live birth and as control group 200 individuals with one or more than one normal child. The study revealed that the frequency of chromosomal abnormalities and variations leading to recurrent miscarriage in couples was 18% Chromosomal rearrangements constituted 27.78% of the cases while heterochromatic variations constituted 72.22% of the chromosomal cause for recurrent miscarriages. In the present study, pericentric inversion of chromosome 9 and heteromorphism of chromosomes 1 were the most common findings. Present study indicates that there is need to evaluate the known heterochromatic variants as these variants play an important role in pregnancy loss.


  1. Bhasin MK., Human Population Cytogenetics: A Review, Int J Hum Genet, 5, 83-152 (2005)
  2. Borgaonkar D.S., Chromosomal variation in man: a catalogue of chromosomal variants and anomalies, (8th edn) Wiley-Liss, New York (1997)
  3. Shaffer L.G., Slovak M.L., Campbel L.J., ISCN 2009: an International System for Human Cytogenetic Nomenclature. S Karger Publishing, Basel, Switzerland, 53-54 (2009)
  4. Sahin F., Yilmaz Z., Yuregir O.O., Bulakbasi T. and Ozer O., Chromosome heteromorphisms: an impact on infertility, J Assist Reprod Genet., 25, 191-195 (2008)
  5. Madon PF, Athalye AS and Parikh FR, Polymorphic variants on chromosomes probably play a significant role in infertility, Reprod Biomed Online, 11(6),72632(2005)
  6. Verma R and Babu A, Human chromosomes: Principles and Techniques, Second edition, McGraw Hill, New York, (1995)
  7. Hong Y, Zhou Y, Tao J, Wang S and Zhao X., Do polymorphic variants of chromosomes affect the outcome of in vitro fertilization and embryo transfer treatment?, Hum Reprod, 26(4), 933940 (2011)
  8. Minocherhomji S, Athalye A, Madon P, Kulkarni D, Uttamchandani S, Parikh F., A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype, Fertility and Sterility, 92(1), 88-95 (2009)
  9. Brothman A, Schneider N, Saikevych I, Cooley L, Butler M, Patil S, et al., Cytogenetics Resource Committee, College of American Pathologists/American College of Medical Genetics. Cytogenetic heteromorphisms: Survey results and reporting practices of Giemsa-band regions that we have pondered for years, Arch Pathol Lab Med., 130, 947949 (2006)
  10. Chopade S, Chopade DK, Harde H. Impact of Chromosomal Heteromorphisms on Recurrent Miscarriages, Human Genet Embryol., 2(1), (2012)
  11. Mau UA, Backert IT, Kaiser P and Kiesel L, Chromosomal findings in 150 couple referred for genetic counseling prior to intracytoplasmic sperm injection, Hum Reprod, 12(5), 930-937 (1997)
  12. Boronova I, Bernasovska J, Cakanova G, Ferenc P, Petrejcikova E and Szabadosova V., Heterochromatin Variants in Slovak Women with Reproductive Failure., Int J Hum Genet, 15(1),1-5 (2015)
  13. Akbas E, Senli H, Hallioglu O, Batmaz S and Erdogan N., Association of Pericentric Inversion of Chromosome 9 (inv[9][p11q13]) and Genetic Diseases: Case Report, Labmedicine, 41(2), 96-98 (2010)
  14. Rao B, Kerketta L, Korgaonkar S, Ghosh K. Pericentric inversion of chromosome 9 [inv(9)(p12q13) ]: its association with genetic diseases. Ind J Hum Genet.,12(3),129-132 (2006)
  15. Uehara S, Akai Y, Takeyama Y, Takabayashti T, Okamura K, Yajima A. Pericentric Inversion of Chromosome 9 in Prenatal Diagnosis and Infertility, Tohoku J. Exp. Med.,166(4), 417-427 (1992)
  16. Mierla D, Veronica S. Association of Pericentric Inversion of Chromosome 9 and Infertility in Romanian Population, A Journal of Clinical Medicine,7(1), 25-29 (2012)
  17. Jeong S, Kim B, Yu J. De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly. Yonsei Med J 51(5), 775-780 (2010)
  18. Mozdarani H, Meybodi A and Karimi H, Pericentric inversion of chromosome 9[inv(9)(p11q12)] on infertility, Indian J Hum Genet., 13(1) 26-29 (2007)
  19. Nagvenkar P, Desai K, Hinduja I and Zaveri K., Chromosomal studies in infertile men with oligozoospermia and non-obstructive azoospermia, Indian J Med Res., 122, 3442 (2005)
  20. Dubey S, Chowdhury M, Prahlad B, Kumar V, Mathur R, Hamilton S, Kabra M, Menon P and Verma I, Cytogenetic causes for recurrent spontaneous abortions an experience of 742 couples (1484 cases) , Indian J Hum Genet., 11(2), 94-98 (2005) , 108-113 (2015)
  21. Kosyakova N, Grigorian A, Liehr T, Manvelyan M,Simonyan I, Mkrtchyan H, Aroutiounian R, Polityko A,Kulpanovich A, Egorova T, Jaroshevich E, Frolova A,Shorokh N, Naumchik I, Volleth M, Schreyer I, Nelle H,Stumm M, Wegner R, Reising-Ackermann G, Merkas M,Brecevic L, Martin T, Rodrguez L, Bhatt S, Ziegler M,Kreskowski K, Weise A, Sazci A, Vorsanova S, Cioffi M and Ergul E., Heteromorphic variants of chromosome 9, Molecular Cytogenetics, 6,14 (2013)
  22. Ganguly B and Kadam N, Prenatal Diagnosis of Fetus with Short Limbs Caused by Three Abnormal Chromosomes Inherited from Parents, Int J Hum Genet.,14(2), 83-90 (2014)
  23. Purandare H, Fernandez NV, Deshmukh SV and Chavan S, Heterochromatic variations and Pregnancy losses in Humans, Int J Hum Genet., 11, 167-175 (2011)