A Case Report of Monozygotic Twins with Smith-Magenis Syndrome
Bibliographic record
Abstract
Monozygotic 3.5-year-old twin boys presented for developmental assessment with a history of global developmental delay, behavioral issues including self-harm, and severe receptive and expressive language delays. Chromosome testing confirmed for both a 17p11.2 interstitial microdeletion commonly seen in Smith-Magenis syndrome (SMS), which is characterized by developmental delay, cognitive impairment, and facial and behavioral phenotype. To our knowledge, this is the first description in the literature of monozygotic twins with SMS. Despite their zygosity, the twins had marked differences in presentation including cardiac and renal anomalies, language development, and behavioral phenotype. Both twins displayed disordered speech development, impairments in social interaction, and stereotyped behaviors consistent with autism spectrum disorder, common in the vast majority of cases of SMS. Examining the differences in behavioral and clinical phenotype in monozygotic twins may lead to a better understanding of the cause of the clinical variability seen in SMS, as well as the natural history of this syndrome.
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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 | 0.001 | 0.005 |
| Meta-epidemiology (narrow) | 0.002 | 0.002 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.002 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.003 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.003 | 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".