The Spectrum of Mosaic Double Aneuploidy of Monosomy X and Trisomy 18: Two New Cases and Review of the Literature.

IF 1.3 4区生物学 Q4 CELL BIOLOGY

Cytogenetic and Genome Research Pub Date : 2026-03-09 DOI:10.1159/000551328

Teresa M Campbell, Candace T Myers, Cate R Paschal, James T Bennett, Anita E Beck, Alexandra C Keefe

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引用次数: 0

Abstract

Introduction: Mosaic double aneuploidy (MDA) defines the presence of two chromosomally distinct cells lines derived from the same zygote arising from early cytogenetic events. MDA for monosomy X and trisomy 18 is a rare occurrence described in only 12 individuals in the medical literature to date.

Case presentation: Here, we present two individuals with MDA of monosomy X and trisomy 18 with a Turner predominant phenotype. Congruent with previous reports, the percentage of aneuploid cells is highly variable in differing tissues, without clear genotype-phenotype associations. Molecular mechanism explored in one individual suggests two independent post-zygotic events lead to this chromosomal constitution.

Conclusion: Given the rarity of this condition and the recognition that early post-zygotic chromosomal aneuploidy events are common, additional reports of individuals with MDA are needed to expand the natural history and improve counseling for families, especially in the prenatal period, as clinical manifestations of either chromosomal condition is possible.

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X单体和18三体镶嵌双非整倍体的谱：两例新病例及文献综述。

花叶双非整倍体（MDA）定义了由早期细胞遗传学事件产生的同一受精卵衍生的两个染色体不同的细胞系的存在。X染色体单体和18染色体三体的MDA是一种罕见的现象，迄今为止在医学文献中只有12个个体被描述。病例介绍：在这里，我们提出了两个个体MDA的X单体和三体18与特纳显性表型。与先前的报道一致，非整倍体细胞的百分比在不同的组织中是高度可变的，没有明确的基因型-表型关联。在一个个体中探索的分子机制表明，两个独立的受精卵后事件导致了这种染色体结构。结论：鉴于这种疾病的罕见性和早期受精卵后染色体非整倍体事件的普遍认识，需要更多的MDA患者报告，以扩大自然史和改善对家庭的咨询，特别是在产前，因为任何一种染色体疾病的临床表现都是可能的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cytogenetic and Genome Research 生物-细胞生物学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.