A RARE CASE OF INTERSTITIAL del(1)(p34.3p36.11) DIAGNOSED PRENATALLY
Bibliographic record
Abstract
We report a very rare constitutional interstitial deletion of chromosome 1p defined within 1p34.3-36.11 bands with an intact pter. The diagnosis was made by standard cytogenetics and fluorescence in situ hybridization (FISH) studies on a cordocentesis specimen obtained at 21 weeks gestation. Termination of pregnancy was performed at 22 weeks gestation due to the ultrasound diagnosis of congenital heart disease. Autopsy confirmed congenital heart disease (cardiomegaly, Ebstein's anomaly, secundum atrial septal defect, subendocardial fibroelastosis), pulmonary lymphangiectasis, a high arched palate, short neck, and bilateral long proximally implanted thumbs. To our knowledge, this is the first case of del(1) (p34.3p36.11) diagnosed prenatally.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".