{"id":294,"title":"Long-Read Sequencing Resolves a Complex Acrocentric Chromosome Rearrangement and Enables Successful Preimplantation Genetic Testing","title_zh":"长读长测序解析复杂近端着丝粒染色体重排并成功应用于植入前遗传学检测","url":"https://pubmed.ncbi.nlm.nih.gov/42981497","doi":"10.1002/pd.70299","pmid":"42981497","journal":"Prenat Diagn","kind":"paper","lang":"en","published_at":"2026-11-04T00:00:00+00:00","fetched_at":"2026-11-08T03:44:04+00:00","authors":["Zhang X","Lin Y","Huang M","Huang Q","Wang Z","Zeng J"],"primary_topic":"pgt","topics":[{"slug":"pgt","score":3.0,"hits":["preimplantation genetic"]}],"topic_score":3.0,"preference_score":0.0,"preference_labels":[],"llm_score":73.0,"final_score":73.0,"score_dims":{"novelty":78,"rigor":55,"impact":70,"relevance":92,"translation":82},"recommend_reason":"近端着丝粒复杂重排是 PGT-SR 中的难点，长读长测序提供可落地的断点解析与探针/位点设计路径，对生殖遗传实验室有直接参考价值；但为个案性方法报告且无摘要，证据强度有限，宜作技术路线参考而非改变常规流程。","keywords":["长读长测序","近端着丝粒染色体","复杂染色体重排","植入前遗传学检测","PGT-SR","断裂点定位"],"selected":1,"story_id":79,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-endo-genetics","source_name":"PubMed · 生殖内分泌/遗传/保存","source_tier":1,"mention_count":1,"has_interpretation":false,"journal_key":null,"journal_tier":"unknown","journal_if":null,"is_mock":false,"summary_zh":"该文发表于 Prenat Diagn，报告一例复杂近端着丝粒染色体（D/G 组，含核仁组织区与高度重复序列）重排病例：作者采用长读长测序技术解析常规短读长或核型/芯片难以断点定位的重排结构，据此明确断裂点与衍生染色体组成，并构建可用于胚胎检测的位点方案，最终完成植入前遗传学检测（PGT-SR）并支持成功妊娠/移植。因原文未提供摘要，样本量、检测平台、验证方式与妊娠结局等细节无法核实；从标题推断应为单中心个案或小样本方法学报告，结论的外推性需阅读全文确认。","summary":"","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}