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Medicina & Laboratorio

2021, Number 1

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Medicina & Laboratorio 2021; 25 (1)

Endogamy as a cause of consanguinity and its association with congenital anomalies

Torres-Hernández D, Fletcher-Toledo T, Ortiz-Martínez RA, Acosta-Aragón MA

Language: Spanish
References: 42
Page: 409-418
PDF size: 325.47 Kb.


ABSTRACT

The role of consanguinity as a cause of homozygosity in human health is a focus of interest in medical genetics, due to its relationship with congenital anomalies and recessive genetic pathologies. This is an important issue since the rates of consanguineous unions in certain societies have decreased over time, but have remained stable or have increased in others. Consanguinity is practiced in up to 10% of the world population, and the most common reasons are sociocultural and socioeconomic factors. Although there has been a decrease in this practice, probably due to urban migration and an increase in education rates, consanguinity continues to be practiced throughout the world. The most significant effects on reproductive outcomes are mainly due to autosomal recessive hereditary conditions, that also increase the frequency of medical disorders. The aim of this review is to present the current evidence of the association between consanguinity originating from endogamy, with congenital abnormalities and medical disorders originated from mendelian genetic pathologies. A cultural appropriate approach is required for genetic counseling in relation to consanguineous endogamy.


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