Genomic architecture of human chromosomal diseases
- 作者: Kashevarova A.1, Lebedev I.1
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隶属关系:
- Research Institute of Medical Genetics
- 期: 卷 52, 编号 5 (2016)
- 页面: 447-462
- 栏目: Reviews and Theoretical Articles
- URL: https://journals.rcsi.science/1022-7954/article/view/187703
- DOI: https://doi.org/10.1134/S1022795416040062
- ID: 187703
如何引用文章
详细
The genomic architecture predisposed to the emergence of DNA copy number variation causing a new class of human chromosomal diseases—reciprocal microdeletion and microduplication syndromes— is reviewed in the paper. The molecular mechanisms of such chromosomal abnormalities are described. The problems of the interpretation of their clinical significance and genotype-phenotype correlations are discussed. The classification of phenotypes due to reciprocal chromosomal microdeletions and microduplications is shown. Published by 2015, reciprocal mutations associated with inherited and congenital human pathology and involving 58 chromosomal regions are summarized.
作者简介
A. Kashevarova
Research Institute of Medical Genetics
编辑信件的主要联系方式.
Email: anna.kashevarova@medgenetics.ru
俄罗斯联邦, Tomsk, 634050
I. Lebedev
Research Institute of Medical Genetics
Email: anna.kashevarova@medgenetics.ru
俄罗斯联邦, Tomsk, 634050