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

Autor:	Sanyal, Debarshi, Bhairi, Vidya, S Kadandale, Jayarama
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	endocrine system Consanguinity inversion familial translocations endogamy Case Report conventional cytogenetics
Zdroj:	International Journal of Molecular and Cellular Medicine
ISSN:	2251-9645 2251-9637
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::92b5c414a3635562811b606f5ebaca3f http://europepmc.org/articles/PMC4916784 Zobrazit plný text záznamu