{"id":"W4414808758","doi":"10.1002/ccr3.71093","title":"Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali","year":2025,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Canadian Institutes of Health Research","keywords":"Fluorescence in situ hybridization; Trisomy; Polydactyly; In situ hybridization; Prenatal diagnosis; Fluorescence; Comparative genomic hybridization; In situ","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004249644,0.0005827337,0.0003738719,0.001394409,0.0008678971,0.0009749862,0.0005153231,0.001705877,0.0007920816],"category_scores_gemma":[0.002301126,0.0004615359,0.0003318289,0.0003772597,0.001554822,0.000618911,0.001151309,0.001281549,0.000353898],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007417564,"about_ca_system_score_gemma":0.0004675564,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001654304,"about_ca_topic_score_gemma":0.002761168,"domain_scores_codex":[0.9994615,0.0001269171,0.00006531209,0.0001081298,0.0001197936,0.0001184049],"domain_scores_gemma":[0.9994404,0.0002750675,0.000107249,0.00003218204,0.00004274701,0.0001023267],"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":[0.00002516579,0.00001197484,0.008253611,0.00004757082,0.000005265717,0.967833,0.0006751213,0.00009122677,0.0160067,0.000522627,0.0001706971,0.006357059],"study_design_scores_gemma":[0.000001669381,0.00004769702,0.003163208,0.00002591944,0.000009788168,0.9882601,0.0003822923,0.0002522912,0.006372501,0.0001327518,0.001343229,0.000008510559],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9664582,0.00527304,0.01226513,0.004765921,0.0004504164,0.00009826188,0.00008706475,0.0001634609,0.01043861],"genre_scores_gemma":[0.9870658,0.003019876,0.007946946,0.0004454636,0.0001991161,0.00001946589,0.0000257598,0.00001977987,0.001257863],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001705877,"threshold_uncertainty_score":0.005381823,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09506423725916331,"score_gpt":0.4045781980373687,"score_spread":0.3095139607782054,"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."}}