17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication How it is diagnosed 1 supporting source confidence 97% novelty 75%

Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study

Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study Background Limited reports have investigated the genetic etiology of fetuses with digestive system malformations (DSMs).

How this was derived

Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:523. 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)

Additionally, CMA identified 6 cases of likely pathogenic/pathogenic CNVs (pCNVs/lpCNVs) that were missed by karyotype analysis, including 17q12 microdeletion/microduplication, 16p11.2 microduplication, 22q11.21q11.22 microdeletion, 2q13 microdeletion, and 16p13.11 microduplication, yielding an incremental diagnostic rate of 7.89% (6/76) for CMA over karyotype analysis ( P = 0.031).

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Genetic evaluation and pregnancy outcome of fetuses with digestive ... openalex 2026-05-08 yesterday 1.00