{"id":"W2055860528","doi":"10.1111/j.1399-0004.2006.00654.x","title":"Phenotypic variability in isodicentric Y patients: study of nine cases","year":2006,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":131,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Division of Chemistry","keywords":"Karyotype; Biology; Phenotype; Isochromosome; Genetics; Sexual differentiation; Y chromosome; X chromosome; Breakpoint; Ambiguous genitalia; Chromosome; Gene; Anatomy","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":[0.0002888594,0.0007779099,0.0005623676,0.001618202,0.0007735909,0.0005013922,0.0004351047,0.0006041802,0.001885642],"category_scores_gemma":[0.002647409,0.0004333767,0.0003263175,0.0007250935,0.0008599021,0.0002557498,0.0008198692,0.0003901045,0.0003493057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002993037,"about_ca_system_score_gemma":0.0002284557,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007807937,"about_ca_topic_score_gemma":0.0006987279,"domain_scores_codex":[0.9993384,0.00009704872,0.00008174006,0.0002290704,0.0001347106,0.0001189722],"domain_scores_gemma":[0.9990667,0.0002887125,0.0002273391,0.00009564466,0.00008060881,0.0002410108],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0002951394,0.0002417891,0.7674366,0.00004891689,0.00006421209,0.2044109,0.002275795,0.0002509272,0.01229817,0.0001865836,0.0003345436,0.01215656],"study_design_scores_gemma":[0.00005321152,0.0007877488,0.4353903,0.00001637773,0.00004688226,0.5582161,0.001094451,0.0002930622,0.002540938,0.0002093359,0.001309598,0.00004197969],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991001,0.0001310968,0.0002369715,0.00002819722,0.000004863931,0.00001650891,0.00004348275,0.00000679721,0.0004320382],"genre_scores_gemma":[0.9994959,0.00007908449,0.0001756151,0.00001876056,0.000008537915,0.00001372494,0.00007245285,0.000004432738,0.0001314678],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001885642,"threshold_uncertainty_score":0.006308138,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01872162092783541,"score_gpt":0.3055662506860193,"score_spread":0.2868446297581839,"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."}}