International Journal of Molecular and Cellular Medicine، جلد ۵، شماره ۱، صفحات ۵۷-۶۴
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عنوان انگلیسی Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report
چکیده انگلیسی مقاله We present 2 cases of likely rare event. In case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. In case 2, a couple was presented with 2nd degree consanguineous marriage and referred for 2 recurrent/ missed abortions. The amounts of shared genes are suggestive of more lethal genetic outcomes and inferred endogamy is a major driver to reproductive fiascoes, the ancestries of which are deeply tied at the meiotic level.
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نویسندگان مقاله debarshi sanyal | debarshi sanyal
lilac insight pvt ltd, ambience court, 19th floor, unit 1901 amp; 1902, sec-19 vashi, navi mumbai 400705 maharashtra, india.


vidya bhairi | vidya bhairi
lilac insight pvt ltd, ambience court, 19th floor, unit 1901 amp; 1902, sec-19 vashi, navi mumbai 400705 maharashtra, india.


jayarama s kadandale | jayarama s kadandale
centre for human genetics, biotech park, electronic city, phase- i, bangalore-560100, karnataka, india.
نشانی اینترنتی http://www.ijmcmed.org/browse.php?a_code=A-10-642-1&slc_lang=en&sid=en
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