{"id":"W4385185784","doi":"10.1159/000532051","title":"Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion","year":2023,"lang":"en","type":"article","venue":"Cytogenetic and Genome Research","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of Alberta Hospital; Alberta Hospital Edmonton","funders":"","keywords":"Biology; Gene duplication; Genetics; Fluorescence in situ hybridization; X chromosome; Karyotype; Chromosome; Cytogenetics; Comparative genomic hybridization; Recombinant DNA; Chromosomal inversion; In situ hybridization; Gene; Gene expression","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":[0.000169739,0.0009582617,0.0004887371,0.000720509,0.000578705,0.0003973589,0.0003388205,0.001242748,0.002172326],"category_scores_gemma":[0.0006461765,0.0004058226,0.0003406249,0.0005259734,0.000638942,0.0002612523,0.0004401315,0.0007221517,0.000451487],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002885025,"about_ca_system_score_gemma":0.0002787125,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006038786,"about_ca_topic_score_gemma":0.0007730379,"domain_scores_codex":[0.9997622,0.00002986886,0.00002023899,0.00009281892,0.00004513295,0.00004967268],"domain_scores_gemma":[0.999696,0.0001008648,0.0000942562,0.00002194474,0.00001357008,0.00007335613],"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":[0.0001386884,0.00006355932,0.0224858,0.00004993422,0.00002463387,0.9277111,0.0004455106,0.0001676785,0.04256969,0.0003759898,0.0002095044,0.005757893],"study_design_scores_gemma":[0.00001925342,0.0001921588,0.01981045,0.00000666186,0.00003299853,0.969646,0.00008840967,0.0002874467,0.00920123,0.00008723654,0.0006183075,0.000009857946],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965358,0.0004395932,0.001289952,0.0002512341,0.0000186778,0.00002157411,0.0001266209,0.00005905945,0.001257585],"genre_scores_gemma":[0.9981455,0.000226392,0.0007850534,0.00005382916,0.00003110907,0.000007200661,0.00006172874,0.00001140774,0.0006778855],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002172326,"threshold_uncertainty_score":0.007267118,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05021374974328498,"score_gpt":0.3406282528358889,"score_spread":0.2904145030926039,"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."}}