We are evaluating a child with a neurodevelopmental disorder in whom we suspect a genetic cause because they present suggestive findings (e.g., associated multiple congenital malformations). We performed an aCGH which was normal. We also performed a clinical exome (mendeliome) which did not provide information …
Continue reading «Estirando de la cuerda. Cuando el diagnóstico no llega a la primera.»
Comparative genomic hybridization array (aCGH) is the first-choice complementary genetic exploration in children with global developmental delay/intellectual disability and/or multiple congenital malformations, according to AAP, AAN, ISCA, and ACMG clinical guidelines. 1. Moeschler JB, Shevell M; Committee on Genetics Comprehensive evaluation of the child with intellectual disability …
What are the different genetic technologies used for? What type of mutations is each technique capable of detecting?
1. Classification by unit size 2. Why they are unstable (common mechanism) Clinical consequence: genetic anticipation = phenotypic manifestation of this increasing meiotic instability (paternal or maternal bias depending on the disease). 3. Three mechanisms depending on the location of the repeat (STR block) A) Coding exon, triplets (CAG=polyQ) B) Non-coding region (UTR, intron), large expansion…
Indications in which the karyotype remains superior to molecular diagnostic techniques:
Notable Mutations Database This resource provides an up-to-date registry of pathogenic variants and genetic mutations that have relevant clinical impact or notable scientific interest in neuropediatrics and neurodevelopmental genetics. Includes detailed annotations on variants in ion channels (SCN1A, KCNQ2) and neuronal transporters with direct phenotypic correlation.
The MDSGene website contains a directory of currently well-established movement disorders of genetic origin.
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
