Interpretation challenge of small copy number variations in the imprinting regions

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 signifi...

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Autores principales: Ning, Yi, Czekalski, Megan, Herrada, Sylvia, Greene, Carol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266595/
https://www.ncbi.nlm.nih.gov/pubmed/35484641
http://dx.doi.org/10.1002/mgg3.1961
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author Ning, Yi
Czekalski, Megan
Herrada, Sylvia
Greene, Carol
author_facet Ning, Yi
Czekalski, Megan
Herrada, Sylvia
Greene, Carol
author_sort Ning, Yi
collection PubMed
description 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[Image: see text]
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spelling pubmed-92665952022-07-12 Interpretation challenge of small copy number variations in the imprinting regions Ning, Yi Czekalski, Megan Herrada, Sylvia Greene, Carol Mol Genet Genomic Med Letter to the Editor 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[Image: see text] John Wiley and Sons Inc. 2022-04-28 /pmc/articles/PMC9266595/ /pubmed/35484641 http://dx.doi.org/10.1002/mgg3.1961 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Ning, Yi
Czekalski, Megan
Herrada, Sylvia
Greene, Carol
Interpretation challenge of small copy number variations in the imprinting regions
title Interpretation challenge of small copy number variations in the imprinting regions
title_full Interpretation challenge of small copy number variations in the imprinting regions
title_fullStr Interpretation challenge of small copy number variations in the imprinting regions
title_full_unstemmed Interpretation challenge of small copy number variations in the imprinting regions
title_short Interpretation challenge of small copy number variations in the imprinting regions
title_sort interpretation challenge of small copy number variations in the imprinting regions
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266595/
https://www.ncbi.nlm.nih.gov/pubmed/35484641
http://dx.doi.org/10.1002/mgg3.1961
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