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Prevalence of various chromosomal disorders diagnosed in a selected population suspected of having genetic diseases from different regions of the valley of Kashmir, North India

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Abstract

A routine chromosome analysis is being used as a starting point for the diagnosis of chromosomal aberrations by conventional karyotyping. This screening is taken up with an aim to evaluate the prevalence of the patients living with different chromosomal aberrations by conventional karyotyping. A total of 462 suspected cases for different chromosomal abnormalities were included and screened between 2011 and 2013 from the different regions of Kashmir (J & K state, India). Out of the 462 patients, abnormal chromosomes as trisomies, monosomies and translocations were found in 82 (17.75 %) of the cases, whereas 380 (82.25 %) were found to be of normal karyotype. Overall frequency of the various chromosomal disorders found in this investigation was as: Down’s syndrome 11.04 % (51 of 462), Turner’s syndrome 4.11 % (19 of 462), Klinefelter’s syndrome 1.95 % (09 of 462), two Robertsonian translocations t (13:14) 0.43 % (02 of 462) and one triple X with Xp deletion were found in 0.22 % (01 of 462) females who had recurrent missed abortions. Further, out of 24 cases of ambiguous genitalia screened, 12 (50 %) were detected either with 46, XX or 46, XY karyotype. In conclusion we found that people with different genetic disorders particularly chromosomal abnormalities do exist in our population. Among these disorders, Down’s syndrome seems to be occurring at a higher frequency which is possibly due to late marriages with higher maternal age. We also found that interrelation marriages (consanguineous marriages) play an important role in the prevalence of these genetic disorders. The study signifies the importance of karyotyping for the confirmation of clinical diagnosis of chromosomal abnormalities.

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Authors and Affiliations

  1. Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, 190011, J&K, India

    Arshad A. Pandith, Tahir M. Malla, Fayaz A. Dar, Shahnawaz A. Sheikh, Qayser Yousuf, Shehjar Faheem, Farhat Shawl & Mushtaq A. Siddiqi

  2. Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, 190011, J&K, India

    Niyaz A. Azad, Shahid Baba & Zafar A. Shah

Authors
  1. Arshad A. Pandith
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  2. Tahir M. Malla
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  3. Fayaz A. Dar
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  4. Shahnawaz A. Sheikh
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  5. Qayser Yousuf
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  6. Shehjar Faheem
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  7. Farhat Shawl
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  8. Niyaz A. Azad
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  9. Shahid Baba
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  10. Mushtaq A. Siddiqi
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  11. Zafar A. Shah
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Correspondence to Zafar A. Shah.

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Pandith, A.A., Malla, T.M., Dar, F.A. et al. Prevalence of various chromosomal disorders diagnosed in a selected population suspected of having genetic diseases from different regions of the valley of Kashmir, North India. Nucleus 56, 197–204 (2013). https://doi.org/10.1007/s13237-013-0098-0

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  • DOI: https://doi.org/10.1007/s13237-013-0098-0

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