Chromosomal Abnormalities in Infertile Men from Southern India
| Autor: | Chandra R Samuel, Jaganathan Suganya, Smita B. Kujur, Muthiah S. Suruli, Geetha Haripriya, Kamala Selvaraj |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Azoospermia
business.industry chromosomal polymorphisms azoospermia Clinical Biochemistry lcsh:R reciprocal translocation lcsh:Medicine Chromosomal translocation Karyotype General Medicine Gene mutation medicine.disease Bioinformatics Sperm male infertility Male infertility insertion oligozoospermia Genetics Section klinefelter syndrome medicine Endocrine system Klinefelter syndrome business |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 9, Iss 7, Pp GC05-GC10 (2015) |
| Popis: | Background and Objective: Male infertility has been associated with aneuploidies and structural chromosomal abnormalities, Yq microdeletions and specific gene mutations and/or polymorphisms. Besides genetic factors, any block in sperm delivery, endocrine disorders, testicular tumours, infectious diseases, medications, lifestyle factors and environmental toxins can also play a causative role. This study aimed to determine the constitutional karyotype in infertile males having normal female partners in a south Indian population. Materials and Methods: A total of 180 men with a complaint of primary infertility ranging from 1 to 25 years were screened for chromosomal abnormalities through conventional analysis of GTG-banded metaphases from cultured lymphocytes. Results: Four individuals were diagnosed to have Klinefelter syndrome. Two cases exhibited reciprocal translocations and one showed a maternally inherited insertion. Polymorphisms were seen in sixty-seven patients (37.2%). Conclusion: The occurrence of chromosomal abnormalities in 4.6% and variants involving the heterochromatic regions of Y, chromosome 9 and the acrocentric chromosomes in 38.2% of the infertile men with an abnormal seminogram strongly reiterates the inclusion of routine cytogenetic testing and counselling in the diagnostic work-up prior to the use of assisted reproduction technologies. |
| Databáze: | OpenAIRE |
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