Microdeletion on 3p25 in a patient with features of 3p deletion syndrome
Bibliographic record
Abstract
The rare 3p deletion syndrome presents with a spectrum of anomalies caused by deletions of variable lengths within the short arm of chromosome 3. While most of these deletions involve the 3p terminus, interstitial deletions may also give rise to features of the syndrome. We have detected an interstitial deletion of 643 kb in a patient who displayed many of the typical 3p deletion features. This patient had a number of findings in common with a previously reported patient, who had a 1.6 Mb interstitial deletion, including cognitive handicap, seizures, and congenital heart defects. A 518 kb region of overlap containing 12 genes may prove to be a critical region for some of these features. The putative functions of several genes, such as CRELD1, SRGAP3, CAMK1, TADA3, and MTMR14 are discussed with respect to their potential involvement in the 3p deletion syndrome phenotype. We suggest that this 518 kb area of overlap may define a critical region, which when deleted, can give rise to the 3p deletion syndrome phenotype.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".