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Órgano oficial de la Universidad Autónoma de Sinaloa

2022, Number Esp

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Rev Med UAS 2022; 12 (Esp)

Genetic diseases: The case of monogenic inheritance patterns

Meza-Espinoza JP, Beltrán-Ontiveros SA, Contreras-Gutiérrez JA, Picos-Cárdenas VJ

Language: Spanish
References: 36
Page: 33-45
PDF size: 271.06 Kb.


ABSTRACT

Monogenic diseases, which are caused by mutations in a single gene, are classified as autosomal dominant, autosomal recessive, X-linked recessive, and X-linked dominant. Usually, these disorders occur more frequently in pediatric age, but are not rare in older people. The OMIM (Online Mendelian Inheritance in Man) database records a total of 26,231 autosomal and 1,320 X-linked diseases. The aim of this paper is to address the main characteristics of the monogenic inheritance patterns, including the risk of disease in families carrying mutations, as well as to specify the most common diseases of each of them.


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