{"id":"W1969762111","doi":"10.1002/1096-8628(20001002)94:4<271::aid-ajmg2>3.0.co;2-y","title":"Familial cryptic translocation with del 4q34?qter and dup 12pter?p13 in sibs with tracheal stenosis: Clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen","year":2000,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Instytut Biologii Medycznej Polskiej Akademii Nauk","keywords":"Biology; Chromosomal translocation; Trisomy; Karyotype; Monosomy; Comparative genomic hybridization; Genetics; Pathology; Chromosome; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003500473,0.0004766149,0.0003998209,0.00145102,0.0008815377,0.000290022,0.0003687951,0.0008080243,0.001770646],"category_scores_gemma":[0.002244755,0.0004382375,0.0003970598,0.0004388138,0.000778159,0.0001531883,0.0006420754,0.0007462238,0.0004300294],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003488789,"about_ca_system_score_gemma":0.0002819357,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001643244,"about_ca_topic_score_gemma":0.001491132,"domain_scores_codex":[0.9996996,0.00006089909,0.00003661883,0.0000598359,0.00007642771,0.00006667555],"domain_scores_gemma":[0.9992768,0.0002584827,0.0001388783,0.00007723454,0.00004877085,0.0001999126],"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":[0.0004497439,0.000112952,0.1486343,0.00007059746,0.0000836102,0.7904341,0.003222537,0.0002154591,0.04954591,0.0002400819,0.0003277955,0.006662809],"study_design_scores_gemma":[0.00003881913,0.0002918468,0.1520858,0.00001893908,0.00008209958,0.8375975,0.0005941386,0.000474416,0.00728029,0.0001913907,0.001327384,0.00001738181],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988164,0.0001484811,0.0004440013,0.00006839298,0.00001290045,0.00001178682,0.00005817742,0.00001841067,0.000421454],"genre_scores_gemma":[0.9991606,0.0001145021,0.0003020483,0.00002643485,0.00001718994,0.000006334968,0.00009578219,0.000005619208,0.000271435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001770646,"threshold_uncertainty_score":0.00592339,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03314218425031826,"score_gpt":0.3309262040592487,"score_spread":0.2977840198089304,"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."}}