Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat
Bibliographic record
Abstract
The isolated lissencephaly sequence may be caused by point mutations of the LIS1 gene or by FISH-detectable microdeletions of the 17p13.3 region, which carries the LIS1 gene. These have various patterns of phenotypic presentations, including the Miller-Dieker syndrome (MDS). Approximately 20% of these deletions are associated with a derivative chromosome 17 inherited from a parent who has a balanced reciprocal translocation involving chromosome 17 and another chromosome. We report a case of lissencephaly associated with a maternally inherited unbalanced translocation involving chromosome arms 17p and 20p. This results in partial monosomy of 17p13.3-->pter and partial trisomy of 20p12.2-->pter. To our knowledge, this is the first report of a reciprocal translocation between 17p and 20p. Our patient has a combination of findings of the MDS and trisomy 20p, along with several unique anomalies not described in either of those two conditions. This report may contribute to the delineation of a phenotype resulting from partial monosomy 17p and partial trisomy of 20p.
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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 | 0.001 | 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".