The results of a genetic study are not definitive, and in the case of variants of uncertain significance, it is necessary to continue investigations to clarify their meaning.
Category archives: Clinical guide
Syndromes of microdelección and microduplication.
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.»
Sleep development.
During the first years of life, there is a great variability in the normal dream, and produce very significant changes in the duration and distribution of the dream in a short time, which is why it is interesting to count with normogramas:
Gravity of the TEA.
Diagnostic criteria of ASD.
D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.
Genetic diseases in minoritary populations.
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.
Genetic nomenclature
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.
EEG interpretation protocol in pediatric epilepsy.
Treatable causes protocol.
In our geographical context, all newborns are offered the heel prick test or neonatal screening for congenital diseases, which currently in the Valencian Community includes 10 diseases. The clinical guideline for the diagnosis of global developmental delay and intellectual disability of the American Academy of Neurology …
