{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001726652,0.0002322445,0.0003218843,0.0001245227,0.00005537162,0.00002848437,0.0001902788,0.0001886403,0.00004713346],"category_scores_gemma":[0.00002764776,0.0002548466,0.000081465,0.0001237485,0.0000655007,0.000008406304,0.0001101926,0.0001249557,0.0000782976],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000033983,"about_ca_system_score_gemma":0.0001356396,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003900843,"about_ca_topic_score_gemma":0.0003515425,"domain_scores_codex":[0.998433,0.0001399063,0.0003547087,0.0005573425,0.0001101613,0.0004048776],"domain_scores_gemma":[0.9993636,0.00001281816,0.0000670951,0.0003894231,0.00004836706,0.0001186958],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003812942,0.0002797073,0.01146892,0.0000632917,0.0001474305,0.0009739229,0.0008660369,0.002477398,0.97679,0.003417394,0.000226073,0.002908555],"study_design_scores_gemma":[0.02271197,0.006700886,0.07109214,0.0001887262,0.0002721814,0.01905629,0.001533643,0.0035348,0.7950943,0.003424832,0.07249281,0.003897494],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914,0.0003378327,0.00600237,0.0004083837,0.0002524203,0.0005610113,0.0000295129,0.0000165145,0.0009919616],"genre_scores_gemma":[0.9976882,0.00003870725,0.0009388955,0.0005761007,0.00007311566,0.00009977978,0.0001279201,0.00003231706,0.0004249788],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1816957,"threshold_uncertainty_score":0.9999904,"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."}}