17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion Signs & symptoms 1 supporting source confidence 97% novelty 90%

New observation reported: 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.”

More phenotype expansion

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)

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