Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India

Santhosh Kumar Jamithireddy; Rabi Prasad; Pavani Upendram

doi:doi:10.11648/j.ajset.20261103.23

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Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India

Santhosh Kumar Jamithireddy^*

, Rabi Prasad

, Pavani Upendram

Published in American Journal of Science, Engineering and Technology (Volume 11, Issue 3)

Received: 3 September 2026 Accepted: 15 September 2026 Published: 28 September 2026

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Abstract

Chromosomal heteromorphic variants are usually regarded as benign; nevertheless, some studies have found an association with subfertility, and their clinical importance is still uncertain. The present case–control study was carried out in order to assess the link between chromosomal heteromorphisms and male subfertility in a South Indian population. A total of 1,200 South Indian men were included in the study, comprising 600 subfertile men who had been referred for chromosomal analysis and 600 fertile men who served as controls. For the chromosomal assessment, standard cytogenetic methods were used, such as culturing peripheral blood lymphocytes, G-banding, and karyotyping. The results indicated that the frequency of chromosomal heteromorphisms was significantly greater in the group of subfertile men than in the control group (18.3% versus 7.5%), with a statistically significant association (OR = 2.77, 95% CI: 1.92–3.99; p < 0.001). Of the variants, Yqh− and 9qh+ were found to have statistically significant associations with male subfertility, while inv (9) showed increased odds although this was not statistically significant. The findings thus suggest a possible association between chromosomal heteromorphic variants, especially those involving chromosomes Y and 9, and male subfertility.

Published in	American Journal of Science, Engineering and Technology (Volume 11, Issue 3) This article belongs to the Special Issue Advances in Translational Research, Biotechnology, and Sustainable Bio-Innovations
DOI	10.11648/j.ajset.20261103.23
Page(s)	239-245
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2026. Published by Science Publishing Group

Keywords

Subfertility, Heteromorphisms, G-Banding, Chromosomal Analysis, Karyotyping, Cytogenetics, Spermatogenesis

References

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[12]	Rodriguez, F., Cruz, M. & Requena, A. Impact of parental chromosomal polymorphisms on the incidence of congenital anomalies and perinatal complications in a cohort of newborns conceived after ICSI + PGT-A. Reprod Biol Endocrinol 20, 145 (2022). https://doi.org/10.1186/s12958-022-01012-2
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APA Style

Jamithireddy, S. K., Prasad, R., Upendram, P. (2026). Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India. American Journal of Science, Engineering and Technology, 11(3), 239-245. https://doi.org/10.11648/j.ajset.20261103.23

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ACS Style

Jamithireddy, S. K.; Prasad, R.; Upendram, P. Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India. Am. J. Sci. Eng. Technol. 2026, 11(3), 239-245. doi: 10.11648/j.ajset.20261103.23

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AMA Style

Jamithireddy SK, Prasad R, Upendram P. Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India. Am J Sci Eng Technol. 2026;11(3):239-245. doi: 10.11648/j.ajset.20261103.23

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@article{10.11648/j.ajset.20261103.23,
  author = {Santhosh Kumar Jamithireddy and Rabi Prasad and Pavani Upendram},
  title = {Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India},
  journal = {American Journal of Science, Engineering and Technology},
  volume = {11},
  number = {3},
  pages = {239-245},
  doi = {10.11648/j.ajset.20261103.23},
  url = {https://doi.org/10.11648/j.ajset.20261103.23},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajset.20261103.23},
  abstract = {Chromosomal heteromorphic variants are usually regarded as benign; nevertheless, some studies have found an association with subfertility, and their clinical importance is still uncertain. The present case–control study was carried out in order to assess the link between chromosomal heteromorphisms and male subfertility in a South Indian population. A total of 1,200 South Indian men were included in the study, comprising 600 subfertile men who had been referred for chromosomal analysis and 600 fertile men who served as controls. For the chromosomal assessment, standard cytogenetic methods were used, such as culturing peripheral blood lymphocytes, G-banding, and karyotyping. The results indicated that the frequency of chromosomal heteromorphisms was significantly greater in the group of subfertile men than in the control group (18.3% versus 7.5%), with a statistically significant association (OR = 2.77, 95% CI: 1.92–3.99; p < 0.001). Of the variants, Yqh− and 9qh+ were found to have statistically significant associations with male subfertility, while inv (9) showed increased odds although this was not statistically significant. The findings thus suggest a possible association between chromosomal heteromorphic variants, especially those involving chromosomes Y and 9, and male subfertility.},
 year = {2026}
}

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TY  - JOUR
T1  - Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India
AU  - Santhosh Kumar Jamithireddy
AU  - Rabi Prasad
AU  - Pavani Upendram
Y1  - 2026/09/28
PY  - 2026
N1  - https://doi.org/10.11648/j.ajset.20261103.23
DO  - 10.11648/j.ajset.20261103.23
T2  - American Journal of Science, Engineering and Technology
JF  - American Journal of Science, Engineering and Technology
JO  - American Journal of Science, Engineering and Technology
SP  - 239
EP  - 245
PB  - Science Publishing Group
SN  - 2578-8353
UR  - https://doi.org/10.11648/j.ajset.20261103.23
AB  - Chromosomal heteromorphic variants are usually regarded as benign; nevertheless, some studies have found an association with subfertility, and their clinical importance is still uncertain. The present case–control study was carried out in order to assess the link between chromosomal heteromorphisms and male subfertility in a South Indian population. A total of 1,200 South Indian men were included in the study, comprising 600 subfertile men who had been referred for chromosomal analysis and 600 fertile men who served as controls. For the chromosomal assessment, standard cytogenetic methods were used, such as culturing peripheral blood lymphocytes, G-banding, and karyotyping. The results indicated that the frequency of chromosomal heteromorphisms was significantly greater in the group of subfertile men than in the control group (18.3% versus 7.5%), with a statistically significant association (OR = 2.77, 95% CI: 1.92–3.99; p < 0.001). Of the variants, Yqh− and 9qh+ were found to have statistically significant associations with male subfertility, while inv (9) showed increased odds although this was not statistically significant. The findings thus suggest a possible association between chromosomal heteromorphic variants, especially those involving chromosomes Y and 9, and male subfertility.
VL  - 11
IS  - 3
ER  -

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Author Information

Santhosh Kumar Jamithireddy

Department of Biotechnology, Gandhi Institute of Engineering and Technology University (GIET University), Gunupur, India

Contact Email

http://orcid.org/0009-0004-3267-7742
Rabi Prasad

Department of Biotechnology, Gandhi Institute of Engineering and Technology University (GIET University), Gunupur, India

Contact Email

http://orcid.org/0000-0003-0556-2494
Pavani Upendram

Department of Genetics, Krishna Institute of Medical Sciences, Hospital (KIMS), Secunderabad, India

Contact Email

http://orcid.org/0009-0000-9626-1640

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APA Style

Jamithireddy, S. K., Prasad, R., Upendram, P. (2026). Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India. American Journal of Science, Engineering and Technology, 11(3), 239-245. https://doi.org/10.11648/j.ajset.20261103.23

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ACS Style

Jamithireddy, S. K.; Prasad, R.; Upendram, P. Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India. Am. J. Sci. Eng. Technol. 2026, 11(3), 239-245. doi: 10.11648/j.ajset.20261103.23

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AMA Style

Jamithireddy SK, Prasad R, Upendram P. Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India. Am J Sci Eng Technol. 2026;11(3):239-245. doi: 10.11648/j.ajset.20261103.23

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@article{10.11648/j.ajset.20261103.23,
  author = {Santhosh Kumar Jamithireddy and Rabi Prasad and Pavani Upendram},
  title = {Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India},
  journal = {American Journal of Science, Engineering and Technology},
  volume = {11},
  number = {3},
  pages = {239-245},
  doi = {10.11648/j.ajset.20261103.23},
  url = {https://doi.org/10.11648/j.ajset.20261103.23},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajset.20261103.23},
  abstract = {Chromosomal heteromorphic variants are usually regarded as benign; nevertheless, some studies have found an association with subfertility, and their clinical importance is still uncertain. The present case–control study was carried out in order to assess the link between chromosomal heteromorphisms and male subfertility in a South Indian population. A total of 1,200 South Indian men were included in the study, comprising 600 subfertile men who had been referred for chromosomal analysis and 600 fertile men who served as controls. For the chromosomal assessment, standard cytogenetic methods were used, such as culturing peripheral blood lymphocytes, G-banding, and karyotyping. The results indicated that the frequency of chromosomal heteromorphisms was significantly greater in the group of subfertile men than in the control group (18.3% versus 7.5%), with a statistically significant association (OR = 2.77, 95% CI: 1.92–3.99; p < 0.001). Of the variants, Yqh− and 9qh+ were found to have statistically significant associations with male subfertility, while inv (9) showed increased odds although this was not statistically significant. The findings thus suggest a possible association between chromosomal heteromorphic variants, especially those involving chromosomes Y and 9, and male subfertility.},
 year = {2026}
}

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TY  - JOUR
T1  - Chromosomal Heteromorphisms and Primary Male Subfertility: A Case–Control Cytogenetic Study from South India
AU  - Santhosh Kumar Jamithireddy
AU  - Rabi Prasad
AU  - Pavani Upendram
Y1  - 2026/09/28
PY  - 2026
N1  - https://doi.org/10.11648/j.ajset.20261103.23
DO  - 10.11648/j.ajset.20261103.23
T2  - American Journal of Science, Engineering and Technology
JF  - American Journal of Science, Engineering and Technology
JO  - American Journal of Science, Engineering and Technology
SP  - 239
EP  - 245
PB  - Science Publishing Group
SN  - 2578-8353
UR  - https://doi.org/10.11648/j.ajset.20261103.23
AB  - Chromosomal heteromorphic variants are usually regarded as benign; nevertheless, some studies have found an association with subfertility, and their clinical importance is still uncertain. The present case–control study was carried out in order to assess the link between chromosomal heteromorphisms and male subfertility in a South Indian population. A total of 1,200 South Indian men were included in the study, comprising 600 subfertile men who had been referred for chromosomal analysis and 600 fertile men who served as controls. For the chromosomal assessment, standard cytogenetic methods were used, such as culturing peripheral blood lymphocytes, G-banding, and karyotyping. The results indicated that the frequency of chromosomal heteromorphisms was significantly greater in the group of subfertile men than in the control group (18.3% versus 7.5%), with a statistically significant association (OR = 2.77, 95% CI: 1.92–3.99; p < 0.001). Of the variants, Yqh− and 9qh+ were found to have statistically significant associations with male subfertility, while inv (9) showed increased odds although this was not statistically significant. The findings thus suggest a possible association between chromosomal heteromorphic variants, especially those involving chromosomes Y and 9, and male subfertility.
VL  - 11
IS  - 3
ER  -

Copy | Download