17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Learning, talking and behaviour 1 supporting source confidence 97% novelty 90%

Someone reported something new: In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1…

A source describes a new or expanded observation: “In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features.”

More something new reported

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:dd6cc7. 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)

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. peer_reviewed · published 2014-04-01 · live page
In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Variable phenotype in 17q12 microdeletions: clinical and molecular ... pubmed 2014-04-01 yesterday 1.00