19955111 {19955111:9JYSMEDE} 1 Ванкувер 50 по умолчанию 4830 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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1.
Соломон Б.Д., Муенке М. Когда следует подозревать генетический синдром. Американский семейный врач [Интернет]. 2012 [цитата по 27 июня 2016 г.];86(9):826. Доступно: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131944/

Диагностическое подозрение основывается на трех столпах:

Существует несколько диагностических стратегий, которые можно сгруппировать в:

Ненаправленное тестирование.

Это те, в которых мы собираемся опросить весь геном, они также известны как геномные тесты. Чтобы указать на них, не обязательно иметь определенное синдромное подозрение, хотя некоторые геномные заболевания можно диагностировать по фенотипу (например, синдром Дауна).

Направленные тесты.

Это те, которые стремятся выявить конкретное заболевание, обычно моногенетическое заболевание (который возникает в результате мутации только 1 гена), когда Клиническую картину теперь можно ориентировать через фенотип., или потому, что из-за характера заболевания его нельзя обнаружить с помощью ненаправленных тестов. Например:

  • Нейрофиброматоз I типа.
  • Х-хрупкий. Его нельзя обнаружить с помощью aCGH или массивного секвенирования, поскольку это заболевание STR.