دوره 5، شماره 1 - ( 11-1394 )                   | برگشت به فهرست نسخه ها


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Sanyal D, Bhairi V, S Kadandale J. Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report. Int J Mol Cell Med 2016; 5 (1) :57-64
URL: http://ijmcmed.org/article-1-433-fa.html
Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report. مجله بین المللی سلولی و مولکولی. 1394; 5 (1) :57-64

URL: http://ijmcmed.org/article-1-433-fa.html


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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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نوع مطالعه: Case Report | موضوع مقاله: Genetics & Disease
دریافت: 1394/9/27 | پذیرش: 1394/11/14 | انتشار: 1394/12/17

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