Molecular screening for Smith-Magenis syndrome among patients with mental retardation of unknown cause
Bibliographic record
Abstract
mith-Magenis syndrome is a rare, multiple congenital anomaly/mental retardation syndrome (MCA/MR) associated with interstitial deletion of chromosome 17p11.2.Smith et al 1 first described this condition in two patients.To date, more than 150 cases have been described.Patients with SMS display a variable expression of subtle dysmorphic features, MR, short stature, brachydactyly, visual and auditory impairment, behavioural problems, sleep disturbance, and cardiac and renal malformations. 2 3 Almost all cases are de novo, non-mosaic, and of either maternal or paternal origin.4 5 Although the abnormalities associated with SMS are well described, their subtlety and variable expression make clinical diagnosis often difficult, particularly in neonates and young infants.6 7 The SMS deleted region ranges in size from <1.5 Mb to 9 Mb and the majority of patients have a ∼5 Mb deletion (∼10-11% of chromosome 17).4 8 In general, there is no obvious correlation between the size of the deletion and the severity of the phenotype.8 In the majority of cases, this deletion is visible on careful routine cytogenetic analysis.Despite this, in several cases the deletion has been missed.7 9 Using a FISH probe specific for SMS has enhanced detection of the syndrome, especially in equivocal cases.[10][11][12] Elsea et al 13 reported a patient with a typical SMS phenotype and a normal karyotype at 650 band resolution.This patient was subsequently diagnosed with SMS by FISH.12 Current estimates of the incidence of SMS, based on ascertaining cases in genetics centres, are between 1 in 25 000 4 and 1 in 50 000 14 births.Because the diagnosis of SMS can be missed both clinically and cytogenetically, it is generally believed that this syndrome might be underdiagnosed.In this study, we screened a large population of patients with MR/DD
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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 | 0.003 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| 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".