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

Document Type : Case Report

Authors
Debarshi Sanyal 1
Vidya Bhairi 1
Jayarama S Kadandale 2
1 Lilac Insight Pvt Ltd, Ambience Court, 19th Floor, Unit 1901 & 1902, Sec-19 Vashi, Navi Mumbai 400705 Maharashtra, India
2 Centre For Human Genetics, Biotech Park, Electronic City, Phase- I, Bangalore-560100, Karnataka, India
1100..2222008888//aaccaaddppuubb..BBUUMMSS..55..11
Abstract
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.
Keywords
Consanguinity
endogamy
inversion
familial translocations
conventional cytogenetics