17q12 Knowledge Basedeletion syndrome · static snapshot
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Frequency / statistic Research frontier 1 supporting source confidence 97% novelty 60%

Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been rep

A source reports “50 individuals” in the context of general: “Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been reported, and these individuals were often further tested for CMA because of ID and/or DD.”

How this was derived

Numbers are quoted verbatim from the source; check the source before quoting onward.

Generated 2026-11-13, last changed yesterday. Dedup key freq:50 individuals. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been reported, and these individuals were often further tested for CMA because of ID and/or DD.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Prenatal diagnosis of 17q12 copy number variants in fetuses via chr... pmc 2024-01-01 yesterday 1.00