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Reaching a CNV milestone

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A new study compares the copy number variants (CNVs) in 29,085 children with developmental delay to those in 19,584 healthy controls, providing a valuable compilation of such data. The phenotypic variability and wide range of penetrance for these variants present societal challenges regarding how these findings might be incorporated into newborn screening, early intervention and, perhaps, carrier testing and prenatal diagnosis.

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Figure 1: CNVs at chromosome 15q11-q13.3, with the critical region for Prader-Willi and Angelman syndromes between breakpoints 2 and 3 (BP2–BP3).

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Authors and Affiliations

  1. Arthur L. Beaudet is in the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas, USA.,

    Arthur L Beaudet

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  1. Arthur L Beaudet
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Correspondence to Arthur L Beaudet.

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Competing interests

A.L.B. is a member of the Department of Molecular and Human Genetics at Baylor College of Medicine. This department offers extensive genetic laboratory testing and derives revenue from this activity.

Supplementary information

Supplementary Table 1

Broad categorization of CNVs (PDF 50 kb)

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Beaudet, A. Reaching a CNV milestone. Nat Genet 46, 1046–1048 (2014). https://doi.org/10.1038/ng.3106

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