Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene

ConclusionWe provide a possibility to detect giant mitochondria in other cells when muscle was not available. Moreover, clinicians should be aware that homozygous variants can be masqueraded by uniparental disomy or large deletions in offspring of non-consanguineous parents, and excessive homozygosity may be misdiagnosed.

Source: Molecular Genetics & Genomic Medicine - March 10, 2023 Category: Genetics & Stem Cells Authors: Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng Tags: ORIGINAL ARTICLE Source Type: research