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Медицинская генетика

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Генетика умственной отсталости

https://doi.org/10.25557/2073-7998.2021.02.3-20

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Аннотация

Умственная отсталость (УО) встречается примерно у 1% населения. Нарушения интеллекта могут быть обусловлены различными этиологическими факторами. Около 40% случаев УО обусловлено генетическими причинами. Целями обзора являются отражение исторических этапов изучения природы нарушений интеллекта и оценка динамики эффективности диагностики генетических форм УО при внедрении современных методов исследований. Источники для обзора были отобраны в базах данных PubMed, Cochrane, Google Scholar и др. во временном интервале с 1972 по 2020 гг. Эффективность диагностики генетических форм УО за последние десятки лет возросла с 3,7% до 42%. Несмотря на совершенствование методов диагностики генетических форм нарушений интеллекта, в большинстве случаев этиология УО остается неясной.

Об авторе

И. В. Анисимова
ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»
Россия


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Для цитирования:


Анисимова И.В. Генетика умственной отсталости. Медицинская генетика. 2021;20(2):3-20. https://doi.org/10.25557/2073-7998.2021.02.3-20

For citation:


Anisimova I.V. Genetics of mental retardation. Medical Genetics. 2021;20(2):3-20. (In Russ.) https://doi.org/10.25557/2073-7998.2021.02.3-20

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ISSN 2073-7998 (Print)