MG-140 17Q21.31 microdeletion syndrome: A description of two cases
Bibliographic record
Abstract
17q21.31 microdeletion syndrome, also known as Koolen-De Vries syndrome, commonly involves a 500- to 650-kb heterozygous deletion and has a possible incidence of 1 in 16,000. The most frequent clinical features include distinctive facial features, significant speech delays with mild global developmental delays (GDD), childhood hypotonia, congenital malformations, and a friendly disposition. Here we report two patients with 17q21.31 microdeletion syndrome referred for evaluation by metabolic genetics. Both patients were referred at approximately two and a half years of age for evaluation of lysosomal storage disease in view of presumed plateauing in speech development, GDD, and coarse and dysmorphic facial features. Patient one also had seizures and laryngomalacia. She was found to carry a 987.4 kb deletion, the largest described in the literature to our knowledge, extending distally to partially include the gene NSF (Figure 1). Patient two also had hip dysplasia and mild hypotonia. She was found to carry a 695.5 kb deletion (Figure 2). By presenting these two cases, we hope to add to the phenotype of 17q21.31 microdeletion syndrome and to outline the importance of considering comparative genomic hybridization in patients initially suspected to have inborn errors of metabolism.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.003 | 0.001 |
| 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".