Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report
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: (8636 مشاهده) |
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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متن کامل [PDF 485 kb]
(3130 دریافت)
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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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