Sequencing results reports are complex documents full of alphanumeric data that are difficult to understand without general bases to help us interpret them. We usually focus on the final conclusion, that is, the finding of a specific genetic variant and its interpretation of pathogenicity, is the most clinically relevant piece of information, but...
Continue reading «Cómo entender un informe de secuenciación.»
Recessive X-linked inheritance pattern: Dominant X-linked inheritance pattern: Hollandric or Y-linked inheritance. Pseudoautosomal inheritance or “partial sex linkage.” Since X-linked diseases are more limited in number than autosomal diseases, it is a better strategy to know and learn about them. You can consult an extensive list…
Continue reading «Enfermedades ligadas al X de especial relevancia neurogenética.»
Mitochondrial diseases are a group of genetic disorders that affect the mitochondria, the cellular structures responsible for producing energy in the form of ATP (adenosine triphosphate). These diseases are caused by mutations in mitochondrial DNA or in nuclear genes that encode proteins related to mitochondrial function. Because mitochondria are…
The collection of family history is a part of the anamnesis in which the individual is questioned about the presence of certain diseases in their ascendants or descendants. It is advisable to create a complete family tree, and it should include the kinship relationships of the different individuals, their sex, age and those phenotypic characteristics...
The "phenotype first approach" and the "genotype first approach" are two different approaches used in genetics and biology to study the relationship between genes (genotype) and the observable characteristics (phenotype) of an organism. The “phenotype first approach” focuses on the observation and study of the phenotypic characteristics of organisms…
Continue reading «Phenotype first approach y genotype first approach.»
Since the completion of the human genome project, we have experienced a scientific revolution in the field of applied genetics, which is changing the scientific knowledge of those disciplines that are closely related at an unprecedented speed. Pediatric neurology is one of the most affected by this genomic revolution, due to the overrepresentation...
Continue reading «Sesgos cognitivos, asunciones y prejuicios en neurogenética.»
https://www.iislafe.es/es/sociedad/noticias/3163/la-fe-pondra-en-marcha-un-programa-piloto-de-cribado-neonatal-para-detectar-la-atrofia-muscular-espinal
Children with mosaic Down syndrome are difficult to diagnose. There is an international initiative and a pilot research study that can be used in case of clinical suspicion.
Summaries of the most well-known pediatric syndromes.
