P754: 2q22.1q22.3 microdeletion: A case report and literature review
Bibliographic record
Abstract
Deletions of 2q22.1q22.3 region are rarely reported. Patients with these deletions show varying clinical manifestations depending on the size of the deletion in the genomic region and content. Previously, four cases with overlapping microdeletions at 2q22.1q22.3 were reported. Here, we present a patient with smallest copy number change in 2q22.1q22.3 microdeletion region. The clinical features of our patient were compared with previously reported patients and possible genotype-phenotype correlations were investigated. A one year old female presented with developmental delay, hypotonia, feeding difficulty and thinning of the corpus callosum. Chromosomal microarray was performed, and a ∼3.24 Mb heterozygous deletion on 2q22.1q22.3 was identified. Follow-up FISH studies on the proband and parents showed that this copy number change was a de novo event. All five patients have developmental delay and intellectual disabilities with variable dysmorphic features and other anomalies, probably due to variation in size and therefore different gene contents in the 2q22.1q22.3 region. This case report further narrowed down the critical region for 2q22.1q22.3 deletion. Additional case studies are needed to further define the clinical phenotype of deletions in the 2q22.1q22.3 region.
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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".