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

Medicina y Laboratorio

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Title Endogamy as a cause of consanguinity and its association with congenital anomalies
La endogamia como causa de consanguinidad y su asociación con anomalías congénitas
 
Creator Torres-Hernández, Daniela
Fletcher-Toledo, Tatiana
Ortiz-Martínez, Roberth Alirio
Acosta-Aragón, María Amparo
 
Subject endogamy
consanguinity
founder effect
congenital anomalies.
endogamia
consanguinidad
efecto fundador
anomalías congénitas.
 
Description 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, which 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.
El papel de la endogamia como causa de homocigosidad en la salud humana es un foco de interés en genética médica, debido a su relación con anomalías congénitas y patologías genéticas recesivas. Es un tema importante a pesar de que las tasas de uniones consanguíneas en ciertas sociedades han disminuido con el tiempo; sin embargo, en algunas comunidades se han mantenido estables o han aumentado. La consanguinidad es practicada hasta en el 10% de la población mundial, y los motivos más comúnmente citados son socioculturales y socioeconómicos. Aunque se ha visto una disminución de esta práctica, probablemente por la migración urbana y el aumento de las tasas de educación, la consanguinidad continúa practicándose en todo el mundo. Los efectos más significativos sobre los resultados reproductivos se deben, principalmente, a condiciones hereditarias autosómicas recesivas, que también aumentan la frecuencia de algunos desórdenes médicos. El objetivo de esta revisión es dar a conocer la epidemiología y los factores predisponentes de la consanguinidad, así como presentar la evidencia actual de la asociación entre la consanguinidad originada en la endogamia y las anormalidades congénitas y patologías médicas como consecuencia de trastornos genéticos mendelianos. Se requiere un enfoque culturalmente apropiado para el asesoramiento genético en relación con la endogamia.
 
Publisher EDIMECO S.A.
 
Date 2020-09-04
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
 
Format application/pdf
 
Identifier https://medicinaylaboratorio.com/index.php/myl/article/view/354
10.36384/01232576.354
 
Source Medicina & Laboratorio; Vol. 25 No. 1 (2021): Enero-Marzo; 409-418
Medicina y Laboratorio; Vol. 25 Núm. 1 (2021): Enero-Marzo; 409-418
2500-7106
0123-2576
 
Language spa
 
Relation https://medicinaylaboratorio.com/index.php/myl/article/view/354/334
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