19955111 {19955111:9JYSMEDE} 1 vancouver 50 default 4830 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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1.
Solomon BD, Muenke M. When to Suspect a Genetic Syndrome. American family physician [Internet]. 2012 [cited 2016 June 27];86(9):826. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131944/

Diagnostic suspicion is based on 3 pillars:

There are several diagnostic strategies, which can be grouped into:

Undirected testing.

They are those in which we are going to interrogate the entire genome, they are also known as genomic tests. It is not necessary to have a specific syndromic suspicion to indicate them, although some genomic diseases are diagnosable by phenotype (such as Down syndrome).

Directed tests.

They are those that seek the identification of a specific disease, usually a monogenetic disease (which is produced by a mutation of only 1 gene), when The clinical picture can now be oriented through the phenotype., or because due to the nature of the disease, it cannot be detected through non-directed tests. For example: