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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2011

Kearney Hutton M, Thorland Erik C, Brown Kerry K, Quintero-Rivera Fabiola, South Sarah T

Abstract excerpt

Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel...

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PMID: 21681106
DOI: 10.1097/GIM.0b013e3182217a3a

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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