Characteristics of rare and private deletions identified in phenotypically normal individuals

摘要

Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not always true. Phenotypically normal individuals showed five CNV deletions larger than 1.5?Mb. The genes related to autosomal dominant trait were absent within these CNV deletions.