{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.chromosomal-disease","code":"thing-q4501577","url":"https://ver.cy/models/thing/q4501577/","name":"chromosomal disease","alternateNames":["chromosome 16p11.2 deletion syndrome, 220kb","chromosomal deletion syndrome","chromosomal duplication syndrome","Small supernumerary marker chromosome","chromosome 6pter-p24 deletion syndrome","chromosome Xp21 deletion syndrome","chromosome 16p12.1 deletion syndrome, 520kb","chromosome 16q22 deletion syndrome","chromosome 2p12-p11.2 deletion syndrome","chromosome 6q11-q14 deletion syndrome","22q11 deletion syndrome","autosomal deletion syndrome"],"kind":"thing","status":"published","version":"0.2.0-wave.3","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"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.","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.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Chromosome-level change","Number or structure","Often de novo","Variable effects"],"structure":{"bundles":[{"id":"help","name":"Help","description":"Care and support first.","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.","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.","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.","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"}]}]}]}]},"agentConduct":{"may":["Explain kinds of chromosomal disease and how they differ from single-gene disorders.","Point families to genetic counselling services."],"mustNot":["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."],"requiresHuman":["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."],"affectedParties":["People with chromosomal conditions","Families","Prospective parents"]},"owners":{"steward":"The treating clinician and genetic counsellor for each family.","roles":[],"masterSystems":["Clinical variant databases"]},"relations":[{"target":"Q200779","type":"parent","note":"registry parent class"},{"target":"genetic disease","type":"related","note":"in registry terms"},{"target":"chromosome abnormality","type":"related","note":"in number or structure"},{"target":"karyotype","type":"related","note":"and microarray"},{"target":"Down syndrome","type":"related","note":"the most common aneuploidy"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.chromosomal-disease","Wikidata: Q4501577 (https://www.wikidata.org/wiki/Q4501577)","ICD-11: LD4 chromosomal anomalies","MeSH: D025063 chromosome disorders"]},"properties":{"applicability":"not-applicable","items":["Down syndrome incidence: about 1 in 700 births","chromosomal abnormalities in live births: about 1 in 150 ratio - estimates","main tests: karyotype, chromosomal microarray, sequencing list"]},"recognition":{"applicability":"optional","items":["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","Not a visible object as a category; features vary by condition."]},"capabilities":{"applicability":"required","items":["explain kinds and causes","relay testing and management","describe counselling and support","route to specialists"]},"hazards":{"applicability":"required","items":["Agents giving personal medical or genetic advice","Stigmatising language","Misinterpreting variants of uncertain significance"]},"interfaces":{"applicability":"required","items":["Clinical genetics and prenatal screening guidelines","Genetic counselling standards","Disability rights and support frameworks"]},"context":{"applicability":"required","items":["Not applicable; a group of conditions.","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"]}},"sources":[{"title":"Wikidata item Q4501577: chromosomal disease","url":"https://www.wikidata.org/wiki/Q4501577","note":"identity and sense of the item"},{"title":"Wikipedia: Chromosomal disease","url":"https://en.wikipedia.org/wiki/Chromosomal_disease","note":"general description of the item"}],"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?"],"resources":{"spec":"/models/things/publications/thing-q4501577/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q4501577/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-13T06:52:40Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-06T19:52:00+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}