Ann Genet Genet Disord | Volume 1, Issue 1 | Research Article | Open Access

Cytogenetic Observations in Infertile Men with Varying Clinical Findings: A Case-Only Study from Kashmir, North India

Tahir Mohiuddin Malla1, Mahrukh Hameed Zargar1*, Nabeela Khan1, Rehana Ahmed1, Fayaz Ahmad Dar1 and Zafar A Shah2

1Department of Human Genetics, Sher-I-Kashmir Institute of Medical Sciences, India
2Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, India

*Correspondance to: Mahrukh Hameed Zargar 

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Objective: Male infertility has been attributed to many conditions that include varicocele, cryptorchidism, spermatic duct obstruction, urogenital tract infections, antisperm antibodies, retrograde ejaculation, endocrine disturbances, systemic diseases, testicular malignancy and environmental factors. Besides, it has been associated with aneuploidies and structural chromosomal abnormalities, Y chromosome microdeletions and specific gene mutations. The present study aimed to determine the frequency and type of chromosomal abnormalities in infertile males having normal female partners in Kashmiri population.
Materials and Methods: A total of 40 men with a complaint of primary infertility were screened for chromosomal abnormalities through conventional analysis of GTG-banded metaphases from cultured lymphocytes.
Results: Cytogenetic analysis revealed abnormal karyotypes in 60% studied infertile men. Klinefelter’s syndrome karyotype was found in 40% cases and was the most common numerical/ sex chromosomal anomaly. Besides, 46,XY/47,XY,+19 mosaic karyotype was reported in one of the cases. Structural chromosomal anomalies were observed in 7.5% of the cases including two novel karyotypes 46,XY/46,XY,i(7q) and 46,XY/46,XY,t(5;20)(q14;q13.2) that have not been reported anywhere in male infertility.
Conclusion: The occurrence of chromosomal abnormalities in 60% of the studied infertile men strongly reiterates the inclusion of routine cytogenetic testing and counseling in the diagnosis and management of male infertility.


Cytogenetics; Male infertility; Azoospermia; Kashmir population


Malla TM, Zargar MH, Khan N, Ahmed R, Dar FA, Shah ZA. Cytogenetic Observations in Infertile Men with Varying Clinical Findings: A Case-Only Study from Kashmir, North India. Ann Genet Genet Disord. 2018;1(1):1002.

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