Open AccessInterpretation challenge of small copy number variations in the imprinting regions
Author(s) -
Ning Yi,
Czekalski Megan,
Herrada Sylvia,
Greene Carol
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1961
Subject(s) - imprinting (psychology) , genomic imprinting , copy number variation , genetics , biology , computational biology , genome , evolutionary biology , gene , dna methylation , gene expression
We report the findings of small CNVs in two newborns in the genomic imprinting regions. They exemplified the challenge of interpreting small CNVs in diagnostic samples. Careful detection of small CNVs in the imprinting regions and effective genetic counseling are of clinical and reproductive significance