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Article

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.

Laboratory medicine - 2 Nov 2020

Chu Caleb, Wu Haotian, Xu Fangling, Ray Joseph W, Britt Allison, Robinson Sally S, Lupo Pamela J, Murphy Christine R C, Dreyer Charles F, Lee Phillip D K, Hu Peter C, Dong Jianli

Abstract excerpt

Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications. Five segmental duplications, named breakpoints 1 to 5 (BP1-BP5), have been defined as recombination hotspots within 16p11.2. Common CNVs on 16p11.2 include a proximal ~593 kb between BP4 and BP5, and a distal ~220 kb between BP2 and BP3. We performed a search for...

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PMID: 32537635
DOI: 10.1093/labmed/lmaa026

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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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