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   Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report  
   
نویسنده Sanyal Debarshi ,Bhairi Vidya ,Kadandale Jayarama S
منبع international journal of molecular and cellular medicine - 2016 - دوره : 5 - شماره : 1 - صفحه:57 -64
چکیده    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.
کلیدواژه Consanguinity ,endogamy ,inversion ,familial translocations ,conventional cytogenetics
آدرس Lilac Insight Pvt Ltd, India, Lilac Insight Pvt Ltd, India, Centre For Human Genetics, India
 
     
   
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