{"id":"W1828564048","doi":"10.1034/j.1399-0004.2001.590609.x","title":"Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome","year":2001,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"","keywords":"dup; Chromosome 21; Fluorescence in situ hybridization; Biology; Karyotype; Clinodactyly; Gene duplication; Genetics; Chromosome; Chromosome Band; Chromosome 22; Cosmid; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001582363,0.001197701,0.0005255651,0.001314523,0.001339005,0.000461584,0.000350096,0.001199079,0.002071184],"category_scores_gemma":[0.001099531,0.0004389748,0.0003193594,0.0005787789,0.0005779251,0.0004094417,0.0006756268,0.000870586,0.0004147334],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003136595,"about_ca_system_score_gemma":0.0002736236,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002483589,"about_ca_topic_score_gemma":0.003416217,"domain_scores_codex":[0.9997543,0.00002892817,0.000024362,0.00008239248,0.00004558454,0.00006453876],"domain_scores_gemma":[0.9996576,0.00009608011,0.00007189826,0.0000195019,0.00002631817,0.0001286339],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001027835,0.00009947071,0.06307779,0.00002709026,0.00001915803,0.9237702,0.0007947357,0.000124654,0.004899079,0.0002427926,0.0005859723,0.006256305],"study_design_scores_gemma":[0.00001268304,0.0002788057,0.05426289,0.00001332752,0.0000311744,0.9428068,0.000281168,0.0002988953,0.0005590823,0.0001454654,0.001291931,0.00001786627],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955316,0.0004607603,0.0006058027,0.000509037,0.00006153762,0.00002851897,0.000138114,0.00004995207,0.002614723],"genre_scores_gemma":[0.9977331,0.0002571974,0.000586991,0.0002212949,0.00008358533,0.00000917379,0.00006979368,0.000009020434,0.001029748],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002483589,"threshold_uncertainty_score":0.006928742,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0487901033074895,"score_gpt":0.3431997601301554,"score_spread":0.2944096568226659,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}