Description
The copy number gain of 16p12.2p11.2 involves numerous protein-coding genes and includes the atypical 16p11.2 duplication interval referred to as BP2-BP3 or distal 16p11.2 duplication (Coe 2014, Loviglio 2017, Rosenfeld 2013, Sonderby 2020). Most notably, larger copy number gains that include the recurrent 16p11.2 BP2-BP3 duplication region while also extending several Mb distally into 16p12.2 have been associated with broad phenotypes that include language delay, intellectual disability, behavioral difficulties, macrocephaly, and dysmorphic features (Barber 2013, Okamoto 2014). Therefore, based on current medical literature and gene content, this copy number variant (CNV) is classified as pathogenic. References: Barber et al., Eur J Hum Genet. 2013 Feb;21(2):182-9. PMID: 22828807 Coe et al., Nat Genet. 2014 Oct;46(10):1063-71. PMID: 25217958 Loviglio MN, et al. Mol Psychiatry. 2017 Jun;22(6):836-849 PMID: 27240531 Okamoto et al., Am J Med Genet A. 2014 Jan;164A(1):213-9. PMID: 24259393 Rosenfeld JA, Genet Med. 2013 Jun;15(6):478-81 PMID: 23258348 Sonderby et al., Mol Psychiatry. 2020 Mar;25(3):584-602. PMID: 30283035
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | unknown | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |