On the Decipher website, an updated list of all microdeletion and microduplication syndromes can be consulted. More and more microduplication and microdeletion syndromes have been identified over the last few years, with the growing use of aCGH in research and clinical practice. They can be classified based on …
Continue reading «Síndromes de microdelección y microduplicación.»
In our geographical area there are two minority populations that are of interest from a genetic point of view, mainly because they have historically practiced endogamy and show high consanguinity, and because they have experienced genetic bottlenecks that have given rise to the founder effect in some diseases.
The nomenclature of genetic variants is standardized, and rules exist for its use. On the Varnomen website you can find the rules for using genetic nomenclature.
On the EspectroAutista website, multiple self-scoring questionnaires for ASD diagnosis are available. There are also resources on the AutismResearchCentre website. The M-CHAT-R/F questionnaire is available on the MCHATScreen website.
There is a mobile application called NormScales that allows transformation between different scoring systems, including percentiles. There are also web resources where calculators can be used to convert scores from one system to another.
There are several resources to facilitate the interpretation of psychometric tests. The main difficulty they present is knowing which standardized scores each one uses, what its mean and standard deviation are, in order to transform them into the scoring system that is most comfortable or to which we are most accustomed (z, for …
To establish the causality of a genetic variant with respect to a phenotype, sufficient scientific evidence must be obtained. The pathogenicity classification proposed by the ACMG establishes 5 classification categories: Benign, likely benign, variant of uncertain significance, likely pathogenic, and pathogenic. These categories are defined based on the probability that a … exists.
Radiopaedia is a free, collaborative online resource containing high-quality radiological information and images.
GeneReviews is a resource from the United States National Institutes of Health, which compiles updated and high-quality information on genetic diseases, including examinations that should be performed at diagnosis and the health program recommended for follow-up.
Rarechromo is the website of the Unique association, a UK NGO dedicated to creating quality information on genomic and chromosomal disorders.
