New publication
kidney and urinary tract
1 supporting source
confidence 97%
novelty 75%
17q12 Recurrent Deletion Syndrome in Childhood
Background: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability.
How this was derived
Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).
Generated 2026-11-14, last changed
today. Dedup key newdoc:244.
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)
De Novo-Germline Mosaicism The term de novo indicates that the deletion is not detectable in the parents' blood samples and therefore appears to have arisen for the first time in the child.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| 17q12 Recurrent Deletion Syndrome in Childhood | pmc | 2025-01-01 | yesterday | 1.00 |