X-Linked CNV in Pathogenetics of Intellectual Disability

The review considers monogenic and chromosomal variants associated with X-linked intellectual disability. The features of the development of the clinical phenotype in cases of various mutations are described. The focus is on X-linked CNVs – microdeletions and microduplications. The most common chromosomal microaberrations in patients with mental retardation are presented. The modifying influence of the process of X-chromosome inactivation on the phenotype of carriers of X-linked mutations is discussed. He modifying influence of the process of X-chromosome inactivation on the phenotype of carriers of X-linked mutations is discussed. Problems of interpretation of the clinical significance of the identified X-linked CNVs are considered.

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