{"id":"W2137820111","doi":"10.1002/ajmg.10591","title":"Tetrasomy Y by structural rearrangement: Clinical report","year":2002,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Tetrasomy; Clinodactyly; Karyotype; Brachycephaly; Biology; Hypertelorism; Chromosomal rearrangement; Genetics; Speech delay; Short stature; Heterochromatin; Chromosome; Anatomy; Endocrinology; Skull","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007202942,0.0001551911,0.0003494576,0.00006946488,0.00005433197,0.00002681077,0.0005113283,0.0001543618,0.0008336973],"category_scores_gemma":[0.0005500455,0.0001222332,0.0002372203,0.0001858345,0.0006826031,0.000004055757,0.00009786119,0.0003107713,0.00001392765],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006181544,"about_ca_system_score_gemma":0.00006478591,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006819464,"about_ca_topic_score_gemma":0.000003633446,"domain_scores_codex":[0.9973952,0.0001539973,0.001073854,0.0002275921,0.0009011815,0.0002481376],"domain_scores_gemma":[0.9983928,0.00006378645,0.0005920932,0.000259407,0.0001998409,0.0004920998],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000127725,0.0004855998,0.04578403,0.00002020418,0.0003968337,0.0006027372,0.0001490285,0.00001029137,0.005350758,0.00004953383,0.1906434,0.7563799],"study_design_scores_gemma":[0.002186753,0.006296346,0.01209332,0.00005554636,0.0001058216,0.003442197,0.001042894,0.0002560635,0.006882852,0.0001123281,0.9670658,0.0004600879],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914524,0.002716501,0.0005004457,0.00308497,0.0005066859,0.00005056438,0.000006974828,0.000005374565,0.001676059],"genre_scores_gemma":[0.9836008,0.01036755,0.001689251,0.001754332,0.001093259,0.000001350461,0.00001348816,0.00001815672,0.001461813],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7764224,"threshold_uncertainty_score":0.9128401,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01725550196864941,"score_gpt":0.319920653184926,"score_spread":0.3026651512162766,"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."}}