Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication

Conclusion1q21.1 microdeletion and microduplication exhibit a variety of clinical manifestations and the specificity of their clinical features is not high. The penetrance of distal 1q21.1 microdeletion may be affected by other factors in this study. This study discovered an new distal 1q21.1 microduplication, which enriches CNV spectrum in 1q21.1 region and is conducive to prenatal genetic counseling.
Source: The Journal of Gene Medicine - Category: Genetics & Stem Cells Authors: Tags: RESEARCH ARTICLE Source Type: research