{"id":"W2964882545","doi":"10.1159/000501923","title":"Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins","year":2019,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"Fundação de Apoio ao Ensino, Pesquisa e Assistência do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior","keywords":"Chromosomal translocation; Haploinsufficiency; Monosomy; Genetics; Derivative chromosome; Craniofacial; Biology; Trisomy; Gene duplication; Intellectual disability; Karyotype; Chromosome; Phenotype; Gene; Chromosome 15","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":[0.0001781209,0.001289094,0.0005246201,0.001272019,0.0007241816,0.0005098119,0.0004968309,0.001603533,0.002229242],"category_scores_gemma":[0.001405615,0.0007350445,0.000562405,0.0007286338,0.0009650054,0.0003295951,0.0009035015,0.000836431,0.000417271],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005389818,"about_ca_system_score_gemma":0.0003667574,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005398954,"about_ca_topic_score_gemma":0.003868948,"domain_scores_codex":[0.9996333,0.00004292166,0.0000343371,0.0001246013,0.0000605214,0.0001042807],"domain_scores_gemma":[0.9995955,0.0001034033,0.0001106223,0.00002797498,0.00002383878,0.0001388134],"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":[0.0001650819,0.00004140262,0.02877369,0.00005354939,0.00003254359,0.9515302,0.001275975,0.0001428233,0.01303569,0.0002968336,0.0003181476,0.004334047],"study_design_scores_gemma":[0.00003378207,0.000166182,0.05729142,0.000009704653,0.00004620193,0.9371133,0.0002520687,0.0003135413,0.00288278,0.0001664908,0.001700101,0.0000244283],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974099,0.0005469445,0.0007406929,0.0001809482,0.00003758949,0.00002592321,0.00009427025,0.00005622648,0.0009075584],"genre_scores_gemma":[0.9981975,0.0001996853,0.0003135163,0.00007007386,0.00003560184,0.000009208228,0.00007362534,0.000008857882,0.001092038],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005398954,"threshold_uncertainty_score":0.01073509,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005226674123347817,"score_gpt":0.2278879951733591,"score_spread":0.2226613210500113,"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."}}