• Interpretation challenge of small copy number variations in the imprinting regions.

      Ning, Yi; Czekalski, Megan; Herrada, Sylvia; Greene, Carol (Wiley-Blackwell, 2022-04-28)
      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.