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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Detalles Bibliográficos
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
Descripción
Sumario: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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