人類遺伝学と発生学

Intellectual Disabilities Genetics

Abstract

Alesya Rania*

General population, intellectual impairment has a significant social impact. The genetic component of ID's underlying aetiology predominates, although pinpointing this component has historically frequently required lengthy diagnostic journeys. These reasons have become more and more identifiable over the years because to advancements in genetic diagnostic technology and methods: from cytogenetic analysis in 1959 to genomic microarrays with a diagnostic yield of just 20% to next-generation sequencing platforms with a yield of up to 60%. We explore these diverse advancements in this review, together with the difficulties they provide and the effects they have on the field of ID, which emphasises the revolutionary change.