17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported What it can look like 1 supporting source confidence 97% novelty 90%

Someone reported something new: We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism d…

A source describes a new or expanded observation: “We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.”

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:663fd5. 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)

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene? peer_reviewed · published 2020-04-01 · live page
We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletio... pubmed 2020-04-01 yesterday 1.00