title: Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report.
abstract: 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.
authors.affiliation: Lilac Insight Pvt Ltd, Ambience Court, 19 Floor, Unit 1901 & 1902, Sec-19 Vashi, Navi Mumbai 400705 Maharashtra, India.
authors.forename: Debarshi
authors.initials: D
authors.lastname: Sanyal
authors.affiliation: Lilac Insight Pvt Ltd, Ambience Court, 19 Floor, Unit 1901 & 1902, Sec-19 Vashi, Navi Mumbai 400705 Maharashtra, India.
authors.forename: Vidya
authors.initials: V
authors.lastname: Bhairi
authors.affiliation: Centre For Human Genetics, Biotech Park, Electronic City, Phase- I, Bangalore-560100, Karnataka, India.
authors.forename: Jayarama
authors.initials: J
authors.lastname: S Kadandale
keywords: Consanguinity; conventional cytogenetics; endogamy; familial translocations; inversion