{"title":"8p12q11.21嵌合复制1例正常妊娠。","authors":"Weiping Chen, Tao Zhang, Caiping Chen, Liqing Gao","doi":"10.7754/Clin.Lab.2025.250154","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Chromosome 8 belongs to the C group of medium-sized sub-centromere chromosomes. Complete trisomy of 8 most often results in aborted embryos or spontaneous abortion. Chimeric trisomy 8 is a rare autosomal abnormality with high phenotypic heterogeneity.</p><p><strong>Methods: </strong>Peripheral blood DNA was extracted by magnetic bead method, and CNV-seq was performed with MGISEQ-2000 sequencer to analyze chromosome copy number variation (CNVs) in chromosome aneuploidy and those with more than 100 Kb.</p><p><strong>Results: </strong>The test result for the pregnant woman was sseq[GRCh37]8p12q11.21(32608173 48839569)x3 [0.77]chr8:g.32608173 48839569dup. The copy number variant type was pathogenic, and the fragment size was 16.23 Mb.</p><p><strong>Conclusions: </strong>This study suggests that 8p12q11.21 chimeric duplication carriers may have normal phenotype and reproductive function, which should be considered in genetic counseling, especially prenatal counseling.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 8","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Case of 8p12q11.21 Chimeric Duplication with Normal Pregnancy.\",\"authors\":\"Weiping Chen, Tao Zhang, Caiping Chen, Liqing Gao\",\"doi\":\"10.7754/Clin.Lab.2025.250154\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Chromosome 8 belongs to the C group of medium-sized sub-centromere chromosomes. Complete trisomy of 8 most often results in aborted embryos or spontaneous abortion. Chimeric trisomy 8 is a rare autosomal abnormality with high phenotypic heterogeneity.</p><p><strong>Methods: </strong>Peripheral blood DNA was extracted by magnetic bead method, and CNV-seq was performed with MGISEQ-2000 sequencer to analyze chromosome copy number variation (CNVs) in chromosome aneuploidy and those with more than 100 Kb.</p><p><strong>Results: </strong>The test result for the pregnant woman was sseq[GRCh37]8p12q11.21(32608173 48839569)x3 [0.77]chr8:g.32608173 48839569dup. The copy number variant type was pathogenic, and the fragment size was 16.23 Mb.</p><p><strong>Conclusions: </strong>This study suggests that 8p12q11.21 chimeric duplication carriers may have normal phenotype and reproductive function, which should be considered in genetic counseling, especially prenatal counseling.</p>\",\"PeriodicalId\":10384,\"journal\":{\"name\":\"Clinical laboratory\",\"volume\":\"71 8\",\"pages\":\"\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical laboratory\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.7754/Clin.Lab.2025.250154\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2025.250154","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
A Case of 8p12q11.21 Chimeric Duplication with Normal Pregnancy.
Background: Chromosome 8 belongs to the C group of medium-sized sub-centromere chromosomes. Complete trisomy of 8 most often results in aborted embryos or spontaneous abortion. Chimeric trisomy 8 is a rare autosomal abnormality with high phenotypic heterogeneity.
Methods: Peripheral blood DNA was extracted by magnetic bead method, and CNV-seq was performed with MGISEQ-2000 sequencer to analyze chromosome copy number variation (CNVs) in chromosome aneuploidy and those with more than 100 Kb.
Results: The test result for the pregnant woman was sseq[GRCh37]8p12q11.21(32608173 48839569)x3 [0.77]chr8:g.32608173 48839569dup. The copy number variant type was pathogenic, and the fragment size was 16.23 Mb.
Conclusions: This study suggests that 8p12q11.21 chimeric duplication carriers may have normal phenotype and reproductive function, which should be considered in genetic counseling, especially prenatal counseling.
期刊介绍：
Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
