{"id":"W2109482197","doi":"10.1111/j.1399-0004.2005.00512.x","title":"Recurrent trisomy 21: four cases in three generations","year":2005,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"","keywords":"Chromosomal translocation; Genetics; Biology; Trisomy; Chromosome 21; Meiosis; Karyotype; Chromosome; Chromosome 16; Microsatellite; Fluorescence in situ hybridization; Small supernumerary marker chromosome; Chromosome 22; Allele; Gene","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":[0.0005603242,0.002321277,0.0009130599,0.002662428,0.002548596,0.0009360103,0.001264262,0.002494724,0.00421484],"category_scores_gemma":[0.003215952,0.001711584,0.001781325,0.001295661,0.001831086,0.000701427,0.001875703,0.001448007,0.001235718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009242861,"about_ca_system_score_gemma":0.0006295702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004200366,"about_ca_topic_score_gemma":0.003356248,"domain_scores_codex":[0.9986017,0.0001893307,0.0002278896,0.0003313826,0.0003100454,0.0003397381],"domain_scores_gemma":[0.9983303,0.000285025,0.0004929767,0.0002523044,0.0001531004,0.0004863763],"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":[0.0001815904,0.0003313739,0.2043384,0.0001199802,0.0002675333,0.7607654,0.003834772,0.0002797243,0.008598197,0.0005046633,0.001066663,0.01971179],"study_design_scores_gemma":[0.00005745595,0.0002508214,0.05868907,0.00004303498,0.0001115964,0.9365346,0.0004568716,0.0001810065,0.001204888,0.0002105573,0.002197318,0.0000628265],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930733,0.001340598,0.001579757,0.0002961869,0.00008310566,0.0001317995,0.00009673322,0.0002301011,0.003168451],"genre_scores_gemma":[0.9957508,0.0006534849,0.001199404,0.0002012698,0.00009841412,0.00006876569,0.0001524502,0.00004071412,0.001834673],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00421484,"threshold_uncertainty_score":0.01410007,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07568599295019768,"score_gpt":0.3400933890358684,"score_spread":0.2644073960856708,"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."}}