Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report

We present 2 cases of likely rare event. In case 1, 3(rd) 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...

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Detalles Bibliográficos
Autores principales: Sanyal, Debarshi, Bhairi, Vidya, S Kadandale, Jayarama
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4916784/
https://www.ncbi.nlm.nih.gov/pubmed/27386439
Descripción
Sumario:We present 2 cases of likely rare event. In case 1, 3(rd) 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 2(nd) 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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