Category archives: Complementary investigations
Karyotype in the era of the aCGH:
Indications in which the karyotype remains superior to molecular diagnostic techniques:
Notable mutations!
Notable Mutations Database Este recurso proporciona un registro actualizado de las variantes patogénicas y mutaciones genéticas que presentan un impacto clínico relevante o interés científico destacado en neuropediatría y genética del neurodesarrollo. Incluye anotaciones detalladas sobre variantes en canales iónicos (SCN1A, KCNQ2) y transportadores neuronales con correlación fenotípica directa.
Genetics of movement disorders.
The MDSGene website contains a directory of currently well-established movement disorders of genetic origin.
Massive sequencing techniques.
Under the concept of massive sequencing or NGS (next generation sequencing) there are multiple highly complex diagnostic techniques that have significantly increased the diagnostic possibilities in pediatric neurology. We can classify them based on several criteria. https://link.springer.com/chapter/10.1007/978-981-13-8844-6_15
Double trouble. Several genetic diseases in the same individual.
In the era of massive sequencing, access to the intensive study of the genome has provided a much deeper understanding of genetic variability, and how this can give rise to complex phenotypes from the combination of several monogenetic diseases in the same individual. It is estimated that in approximately 5% of …
Continue reading «Double trouble. Varias enfermedades genéticas en un mismo indivíduo.»
Inheritance patterns.
Mendelian: Autosomal dominant. Autosomal recessive. X-linked. Non-mendelian: Imprinting. Mosaicism. Dynamic mutations (Short tandem repeats).
X-linked inheritance with female susceptibility.
In X-linked inheritance, it has classically been considered that the transmission pattern occurs from carrier females to affected males, and that therefore, a carrier female would have a 50% probability of conceiving affected males and a 50% probability of conceiving carrier females. However, this assumption is only met in …
Continue reading «Herencia ligada al X con susceptibilidad femenina.»
Diseases do not diagnosticables by sequencing.
Limitations of exome sequencing:
Protocol for reevaluation and reclassification of variants of uncertain significance (VUS).
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.