Interpretation challenge of small copy number variations in the imprinting regions

Yi Ning; Megan Czekalski; Sylvia Herrada; Carol Greene

doi:10.1002/mgg3.1961

Interpretation challenge of small copy number variations in the imprinting regions

Mol Genet Genomic Med. 2022 Jul;10(7):e1961. doi: 10.1002/mgg3.1961. Epub 2022 Apr 28.

Authors

Yi Ning¹, Megan Czekalski², Sylvia Herrada², Carol Greene²

Affiliations

¹ Department of Pathology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
² Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland, USA.

Abstract

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.

Publication types

Letter

MeSH terms

DNA Copy Number Variations*
Genomic Imprinting*
Humans
Infant, Newborn