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: We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical moveme…

A source describes a new or expanded observation: “We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father.”

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:c8e063. 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)

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature. peer_reviewed · published 2013-02-01 · live page
We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Expanding the phenotype associated with 17q12 duplication: case rep... pubmed 2013-02-01 yesterday 1.00