An active ring X and haploinsufficiency of <i>SHOX</i> contribute to short stature, congenital anomalies, and developmental delay in a female
Bibliographic record
Abstract
We report on a female infant with short stature and mesomelic limb shortening, multiple congenital abnormalities, developmental delay, and Rieger anomaly. Cytogenetic analysis revealed a complex rearrangement of the sex chromosomes in this patient. In addition to a normal X chromosome, a derivative Y [der(Y)] chromosome composed of X and Y material and a ring X [r(X)] were present. Consistent with the fact that this infant had normal female genitalia, the SRY gene was not detected in the Y chromosome portion of the der(Y). By fluorescence in situ hybridization (FISH), XIST was present on the normal X and the r(X), but not on the der(Y). The normal X was late replicating (inactive) and the r(X) early replicating (active) in all lymphocyte metaphases examined. As the X chromosome material on the der(Y) cannot be inactivated, the unusual skew of activation toward the r(X) presumably resulted in the least amount of functional disomy of X-linked genes in the cells of this patient. Deletion of one copy of the SHOX gene was detected in this patient. Haploinsufficiency of this gene is known to be correlated with short stature and mesomelic limb shortening.
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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".