Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters
Bibliographic record
Abstract
The syndrome of tetrasomy 18p has been well documented in the literature. This is typically a result of a supernumerary isochromosome 18p, that has arisen during maternal meiosis II. This report presents clinical and molecular findings in two maternal half sisters with an isochromosome 18p. The isochromosome is inferred to have arisen during meiosis in the maternal grandmother and to have undergone mitotic and meiotic recombination in the mother of JJ and AT. The abnormal cell line may be restricted to the gonad in the mother as only normal 46,XX cells were detected by cytogenetic analysis of her blood or fibroblasts and physical examination revealed only normal findings. Thus, the isochromosome, although present at fertilization, must have been lost from the majority of embryonic precursor cells. This case raises important genetic counseling issues concerning recurrence risks.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 0.001 |
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".