{"title":"Birth of a Mosaic Non–Down Syndrome Offspring to a 45,XY,t(21;21)(q10;q10) Homologous Robertsonian Translocation Carrier: A Case Report.","authors":"Junhao Yan, Qian Zhang, Yanqin Chen, Zi-Jiang Chen","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>BACKGROUND: Homologous Robertsonian translocation carriers have been considered to have no chance, theoretically, of having a normal embryo. For these carriers, traditional genetic counseling would suggest using donated sperm or oocyte rather than using their own gametes.\n\nCASE: This study reports the case of a 45,XY,t(21;21)(q10;q10) homologous Robertsonian translocation carrier who had an approximately normal offspring with a mosaic karyotype: 46,XX,[86]/46, XX,t(21;21)[14].\n\nCONCLUSION: Carriers of homologous Robertsonian translocations might have a chance of having normal offspring. For these carriers, besides traditional assisted reproductive technology such as using gametes from a donor, preimplantation genetic diagnosis might have clinical value.</p>","PeriodicalId":50063,"journal":{"name":"生殖医学杂志","volume":"62 5-6","pages":"337-41"},"PeriodicalIF":0.2000,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"生殖医学杂志","FirstCategoryId":"3","ListUrlMain":"","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
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Abstract
BACKGROUND: Homologous Robertsonian translocation carriers have been considered to have no chance, theoretically, of having a normal embryo. For these carriers, traditional genetic counseling would suggest using donated sperm or oocyte rather than using their own gametes.
CASE: This study reports the case of a 45,XY,t(21;21)(q10;q10) homologous Robertsonian translocation carrier who had an approximately normal offspring with a mosaic karyotype: 46,XX,[86]/46, XX,t(21;21)[14].
CONCLUSION: Carriers of homologous Robertsonian translocations might have a chance of having normal offspring. For these carriers, besides traditional assisted reproductive technology such as using gametes from a donor, preimplantation genetic diagnosis might have clinical value.
期刊介绍：
The Journal of Reproductive Medicine® has been the essential tool of Obstetricians and Gynecologists since 1968. As a highly regarded professional journal and the official periodical of six medical associations, JRM® brings timely and relevant information on the latest procedures and advances in the field of reproductive medicine. Published bimonthly, JRM® contains peer-reviewed articles and case reports submitted by top specialists. Common topics include research, clinical practice, and case reports related to general obstetrics and gynecology, infertility, female cancers, gynecologic surgery, contraception, and medical education.
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