Genomic architecture of human chromosomal diseases

Resumo

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.