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Comment
. 2020 Dec 18:34:20.
doi: 10.15844/pedneurbriefs-34-20.

Neurologic Features with Pathogenic Copy Number Variants

Jason Coryell  1
Affiliations
Comment

Neurologic Features with Pathogenic Copy Number Variants

Jason Coryell. Pediatr Neurol Briefs. .

Abstract

Investigators from Children's Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].

Keywords: Comparative Genomic Hybridization; Genetic; Pediatric Neurology.

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Conflict of interest statement

The author has declared that no competing interests exist.

Comment on

References

    1. Misra S, Peters G, Barnes E, Ardern-Holmes S, Webster R, Troedson C, et al. Yield of comparative genomic hybridization microarray in pediatric neurology practice. Neurol Genet. 2019 Oct;5(6):e367. doi: 10.1212/NXG.0000000000000367. - DOI - PMC - PubMed
    1. Beaudet AL. Reaching a CNV milestone. Nat Genet. 2014 Oct;46(10):1046–8. doi: 10.1038/ng.3106. - DOI - PubMed
    1. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May;86(5):749–64. doi: 10.1016/j.ajhg.2010.04.006. - DOI - PMC - PubMed
    1. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, et al. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec;122(6):1310–8. doi: 10.1542/peds.2008-0297. - DOI - PMC - PubMed
    1. Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, et al. Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID) BMC Med Genet. 2014 Jul;15(1):82. doi: 10.1186/1471-2350-15-82. - DOI - PMC - PubMed

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