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X-Linked CNV in Pathogenetics of Intellectual Disability.
- Source :
-
Russian Journal of Genetics . Oct2022, Vol. 58 Issue 10, p1193-1207. 15p. - Publication Year :
- 2022
-
Abstract
- The review considers monogenic and chromosomal mutations associated with X-linked intellectual disability. Peculiarities of the development of the clinical phenotype in cases of different mutations were described. Special attention is paid to X-linked CNVs (microdeletions and microduplications). Chromosomal microaberrations most frequently found in patients with intellectual disability are presented. A modifying effect of X chromosome inactivation on the phenotype of carriers of X-linked mutations is discussed. The problems of interpretation of the clinical significance of X-linked CNVs are considered. [ABSTRACT FROM AUTHOR]
- Subjects :
- *X chromosome
*INTELLECTUAL disabilities
*DNA copy number variations
Subjects
Details
- Language :
- English
- ISSN :
- 10227954
- Volume :
- 58
- Issue :
- 10
- Database :
- Academic Search Index
- Journal :
- Russian Journal of Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 159577563
- Full Text :
- https://doi.org/10.1134/S102279542210009X