{ "vercy": "1.0-draft", "publication": { "status": "research-draft", "adjudicationStatus": "unreviewed", "publishableCanonical": false, "generatedAt": "2026-09-13T06:52:40Z", "providers": [ "Claude" ], "breadth": "written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify", "pass": 2, "wave": 3, "engine": "claude", "enrichment": { "pass": 3, "engine": "claude", "producedAt": "2026-10-06T10:00:00Z", "ingestedAt": "2026-10-06T07:11:16+00:00", "fields": [ "agent_conduct", "ethics", "owners" ] }, "gate": { "passed": true, "version": "1.0", "at": "2026-10-06T19:52:00+00:00", "evidence": [ "completeness 1.00", "sense: Wikidata description", "2 live sources", "review by codex: pass" ] } }, "metaModel": { "id": "THING-Q4501577", "registryId": "vr.tr.chromosomal-disease", "name": "chromosomal disease", "version": "0.2.0-wave.3", "entryKind": "thing", "family": "Thing Registry", "domain": [ "XCT.STA" ], "status": "research-draft" }, "canonicalUrl": "https://ver.cy/models/thing/q4501577/", "model": { "registry_id": "vr.tr.chromosomal-disease", "name": "chromosomal disease", "purpose": "Let an agent explain chromosomal diseases and their kinds in neutral clinical terms, relay causes, testing and management from genetics sources, describe support and counselling, and route families and individuals to clinical geneticists and genetic counsellors.", "definition": "A genetic disorder caused by an abnormality in the number or structure of chromosomes rather than a single gene, including aneuploidies such as Down, Edwards, Patau, Turner and Klinefelter syndromes, deletion syndromes such as 16p11.2, 6pter-p24 and Xp21 deletions, duplication syndromes, translocations, ring chromosomes and small supernumerary marker chromosomes, detected by karyotyping, microarray and sequencing and often arising as new events at conception; effects range from mild to severe and management is multidisciplinary.", "what_it_is_for": "Not applicable; a group of conditions.", "affordances": [ "explain kinds and causes", "relay testing and management", "describe counselling and support", "route to specialists" ], "distinguishing_features": [ "Chromosome-level change", "Number or structure", "Often de novo", "Variable effects" ], "appearance": "Not a visible object as a category; features vary by condition.", "visual_identification": [ "Disorders of chromosome number or structure", "Aneuploidies, deletion and duplication syndromes such as 16p11.2, 6pter-p24 and Xp21, marker chromosomes", "Single-gene disorders involve one gene; multifactorial conditions involve many factors" ], "physical_properties": [ { "quantity": "Down syndrome incidence", "typical_range": "about 1 in 700", "unit": "births", "note": "" }, { "quantity": "chromosomal abnormalities in live births", "typical_range": "about 1 in 150", "unit": "ratio", "note": "estimates" }, { "quantity": "main tests", "typical_range": "karyotype, chromosomal microarray, sequencing", "unit": "list", "note": "" } ], "families_and_kinds": [ "aneuploidies such as trisomy 21, 18 and 13 and sex chromosome aneuploidies", "deletion syndromes including 16p11.2, 6pter-p24 and Xp21 deletions", "duplication syndromes", "translocations and inversions", "ring chromosomes", "small supernumerary marker chromosomes", "mosaic forms" ], "related_models": [ { "relation": "is a kind of", "target": "genetic disease", "why": "in registry terms" }, { "relation": "is caused by", "target": "chromosome abnormality", "why": "in number or structure" }, { "relation": "is detected by", "target": "karyotype", "why": "and microarray" }, { "relation": "is exemplified by", "target": "Down syndrome", "why": "the most common aneuploidy" } ], "identifiers": [ { "scheme": "ICD-11", "value_or_pattern": "LD4", "note": "chromosomal anomalies" }, { "scheme": "MeSH", "value_or_pattern": "D025063", "note": "chromosome disorders" } ], "standards_and_regulation": [ "Clinical genetics and prenatal screening guidelines", "Genetic counselling standards", "Disability rights and support frameworks" ], "failure_modes_and_hazards": [ "Agents giving personal medical or genetic advice", "Stigmatising language", "Misinterpreting variants of uncertain significance" ], "in_scope": [], "out_of_scope": [], "characteristics": [], "agent_conduct": { "may": [ "Explain kinds of chromosomal disease and how they differ from single-gene disorders.", "Point families to genetic counselling services." ], "must_not": [ "Interpret a person's genetic test result or variant of uncertain significance.", "Use stigmatizing or outdated language for people with chromosomal conditions.", "Advise on pregnancy decisions in a particular case.", "Disclose a person's genetic information without consent." ], "requires_human": [ "Any decision on genetic testing, diagnosis or pregnancy." ] }, "ethics": { "considerations": [ "People with chromosomal conditions deserve dignity and full lives, not definition by a diagnosis.", "Genetic information affects whole families and can lead to discrimination." ], "affected_parties": [ "People with chromosomal conditions", "Families", "Prospective parents" ] }, "owners": { "steward": "The treating clinician and genetic counsellor for each family.", "master_systems": [ "Clinical variant databases" ] } }, "sources": [ { "id": "wikidata", "title": "Wikidata item Q4501577: chromosomal disease", "url": "https://www.wikidata.org/wiki/Q4501577", "url_status": "live", "what_it_supports": "identity and sense of the item", "checked_by": "wikidata-api" }, { "id": "wikipedia-en", "title": "Wikipedia: Chromosomal disease", "url": "https://en.wikipedia.org/wiki/Chromosomal_disease", "url_status": "live", "what_it_supports": "general description of the item", "checked_by": "wikidata-api sitelink" } ], "structure": { "bundles": [ { "id": "help", "name": "Help", "description": "Care and support first.", "rationale": "Safety.", "layers": [ { "id": "results", "name": "Results", "description": "Test results.", "findings": [ { "id": "results-finding", "name": "Results", "description": "Results.", "questions": [ { "text": "Why do prenatal or diagnostic chromosome results need explanation by a clinical geneticist or genetic counsellor?", "kind": "action" }, { "text": "Is the user asking about their own or a family member s results, which needs a specialist?", "kind": "boundary" } ] } ] }, { "id": "support", "name": "Support", "description": "Support.", "findings": [ { "id": "support-finding", "name": "Support", "description": "Support.", "questions": [ { "text": "What support organisations exist for families affected by chromosomal conditions?", "kind": "provenance" }, { "text": "Which entry fits the specific organisation?", "kind": "action" } ] } ] } ] }, { "id": "understand", "name": "Understand", "description": "The conditions.", "rationale": "Clinical.", "layers": [ { "id": "kinds", "name": "Kinds", "description": "Kinds.", "findings": [ { "id": "kinds-finding", "name": "Kinds", "description": "Kinds.", "questions": [ { "text": "What are aneuploidies, deletion and duplication syndromes, translocations, ring chromosomes and marker chromosomes?", "kind": "definition" }, { "text": "Is the question about a chromosomal disease or a single-gene or multifactorial disorder?", "kind": "boundary" } ] } ] }, { "id": "causes", "name": "Causes", "description": "Causes.", "findings": [ { "id": "causes-finding", "name": "Causes", "description": "Causes.", "questions": [ { "text": "How do nondisjunction, structural rearrangements and mosaicism arise, and what role does parental age play?", "kind": "definition" }, { "text": "Which entry fits the specific mechanism?", "kind": "action" } ] } ] } ] }, { "id": "care", "name": "Care", "description": "Testing and management.", "rationale": "Clinical.", "layers": [ { "id": "testing", "name": "Testing", "description": "Testing.", "findings": [ { "id": "testing-finding", "name": "Testing", "description": "Testing.", "questions": [ { "text": "How are chromosomal conditions detected by screening, karyotyping, microarray and sequencing?", "kind": "provenance" }, { "text": "Which references are standard?", "kind": "provenance" } ] } ] }, { "id": "management", "name": "Management", "description": "Management.", "findings": [ { "id": "management-finding", "name": "Management", "description": "Management.", "questions": [ { "text": "How are chromosomal conditions managed by multidisciplinary teams, in general terms?", "kind": "provenance" }, { "text": "Which sources are cited?", "kind": "provenance" } ] } ] } ] }, { "id": "context", "name": "Context", "description": "Ethics and history.", "rationale": "Context.", "layers": [ { "id": "ethics", "name": "Ethics", "description": "Ethics.", "findings": [ { "id": "ethics-finding", "name": "Ethics", "description": "Ethics.", "questions": [ { "text": "What ethical debates surround prenatal screening and disability, with positions attributed?", "kind": "provenance" }, { "text": "Is the presentation neutral and respectful?", "kind": "boundary" } ] } ] }, { "id": "history", "name": "History", "description": "History.", "findings": [ { "id": "history-finding", "name": "History", "description": "History.", "questions": [ { "text": "How were chromosomal disorders discovered, from Lejeune s trisomy 21 to microarray syndromes?", "kind": "provenance" }, { "text": "Which entry fits the history of cytogenetics?", "kind": "action" } ] } ] } ] } ] }, "openQuestions": [ "Should aneuploidy and deletion syndrome be separate primary entries?", "How should genetics sources be linked?", "The registry entry has merged aliases naming specific syndromes; should they be split off?" ], "statistics": { "bundles": 4, "layers": 8, "findings": 8, "questions": 16 } }