{"id":"W1973521185","doi":"10.1097/00125817-200001000-00165","title":"Partial Monosomy 12p and Ring Chromosome 12 Mosaicism in a Male with Developmental Delay and Mild Dysmorphism","year":2000,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Monosomy; Ring chromosome; Genetics; Chromosome; Biology; Karyotype; 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":[0.0002825971,0.00158084,0.001337076,0.003043886,0.001233275,0.0007109887,0.001612548,0.002570114,0.002976999],"category_scores_gemma":[0.001959675,0.0009169722,0.0009649934,0.001016983,0.00157221,0.0005614771,0.0009612537,0.001696084,0.0005573446],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001007253,"about_ca_system_score_gemma":0.0006926896,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005714792,"about_ca_topic_score_gemma":0.003856895,"domain_scores_codex":[0.9994444,0.0000627835,0.00006444239,0.0001598829,0.0001229842,0.0001454448],"domain_scores_gemma":[0.998938,0.0003763744,0.0001695674,0.00004878575,0.00007354657,0.0003935961],"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":[0.0001335337,0.00002444037,0.003559144,0.00001825543,0.00001378519,0.991467,0.0001205708,0.00007452902,0.003247771,0.0001811493,0.0001587116,0.001001197],"study_design_scores_gemma":[0.00002352655,0.0001577722,0.01723436,0.000004787527,0.00004564573,0.979361,0.00009219259,0.0002446181,0.002259294,0.000113166,0.0004435046,0.00002005118],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9868938,0.00170081,0.002092742,0.002204853,0.0002060805,0.00008685102,0.0006516328,0.0002515295,0.005911733],"genre_scores_gemma":[0.996883,0.0003438824,0.0006464352,0.0002030751,0.0001717972,0.00001189199,0.00007863462,0.0000338193,0.001627522],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005714792,"threshold_uncertainty_score":0.01136309,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01069901403555965,"score_gpt":0.2186664312282966,"score_spread":0.207967417192737,"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."}}