{"title":"Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.","authors":"Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto","doi":"10.1038/s41439-024-00289-6","DOIUrl":null,"url":null,"abstract":"<p><p>Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.</p>","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":"11 1","pages":"31"},"PeriodicalIF":1.0000,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329761/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Genome Variation","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1038/s41439-024-00289-6","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.
X 四体综合征或 48,XXXX 是一种罕见的性染色体非整倍体。我们对一名发育迟缓的女性患者的 X 四体综合征的父母来源进行了分析；所有四条 X 染色体均来自母亲，没有来自父亲的性染色体。这一发现表明，母系和父系非分离或多体拯救是罕见的偶发并存现象。为了进行比较，我们对与男性发育迟缓有关的 48,XXYY 的机制进行了分析。
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