{"id":"W2036426926","doi":"10.1002/ajmg.a.33918","title":"Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Hospital for Sick Children; University of Ottawa; Sudbury Regional Hospital; Holland Bloorview Kids Rehabilitation Hospital; SickKids Foundation; Children's Hospital of Eastern Ontario","funders":"","keywords":"Chromosomal inversion; Genetics; Microcephaly; Biology; Ring chromosome; Supernumerary; Small supernumerary marker chromosome; Karyotype; Gene duplication; Short stature; Chromosome 7 (human); Chromosome 16; Chromosome 21; Monosomy; 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":[0.0003126993,0.001001488,0.0006640865,0.0009014279,0.0007103531,0.0005641755,0.0006120807,0.001312938,0.001388596],"category_scores_gemma":[0.001622227,0.0005404745,0.000397193,0.0003763766,0.0007993391,0.0003454554,0.0008692983,0.0007231698,0.0004966281],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002765346,"about_ca_system_score_gemma":0.0002093275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005662107,"about_ca_topic_score_gemma":0.0007252583,"domain_scores_codex":[0.999631,0.00007172082,0.00003874794,0.0001297317,0.00006176763,0.00006700268],"domain_scores_gemma":[0.999431,0.0002211128,0.0001536173,0.00004873782,0.00002433425,0.0001212758],"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":[0.0001628369,0.00004497579,0.02857822,0.00002200049,0.00001671562,0.9560921,0.0006389463,0.0001052101,0.01139255,0.0002224622,0.0002033205,0.002520693],"study_design_scores_gemma":[0.00001492781,0.0001281748,0.01353952,0.000004866076,0.00001893754,0.9831721,0.0001176985,0.0002365275,0.002034277,0.000108881,0.0006131738,0.00001096912],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975917,0.0003893501,0.0003944445,0.0002336159,0.00002250496,0.00001347483,0.00009703138,0.00003198062,0.001225809],"genre_scores_gemma":[0.9979385,0.0002467465,0.0008759265,0.0001227759,0.00004643784,0.000008092968,0.0000794049,0.0000183072,0.0006639772],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001388596,"threshold_uncertainty_score":0.004645348,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007524981018310461,"score_gpt":0.2166416867140231,"score_spread":0.2091167056957126,"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."}}