Category archives: Clinical guide

How to understand a report of sequencing.

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...

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Disease linked to the X of special relevance neurogenetics.

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.»