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: This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood…

A source describes a new or expanded observation: “This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12.”

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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:22b415. 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)

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. peer_reviewed · published 2009-11-04 · live page
This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12.

Supporting documents (1)

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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kus... pubmed 2009-11-04 yesterday 1.00