Identification of 46,XX/46,XY chimerism in a normal fertile male by low-pass copy number variation sequencing and NGS-based STR tests.

IF 2.8 3区医学 Q2 GENETICS & HEREDITY

Journal of Assisted Reproduction and Genetics Pub Date : 2026-08-01 Epub Date: 2026-06-24 DOI:10.1007/s10815-026-03938-7

Yiming Sun, Lulu Xiang, Caixia Lei, Tao Li, Zhichao Li, Yijuan Sun, Xiaoxi Sun

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引用次数: 0

Abstract

Purpose: To describe a rare case of a normal fertile male with the specific tissue distribution of 46,XX in the peripheral blood and gonadal chimerism confirmed by the novel next-generation sequencing (NGS) methodology.

Methods: Cytogenetic analyses, low-pass copy number variation sequencing (CNV-seq) and NGS-based short tandem repeat (STR) tests.

Results: Routine peripheral blood karyotyping showed 46,XX. Fluorescence in situ hybridization (FISH) analysis of lymphocyte metaphase nuclei confirmed 46,XX and sex-determine region Y (SRY)-negative. Further CNV-seq revealed the presence of Y chromosome in the semen. NGS-based STR tests discovered low-level Y chromosome in the buccal mucosa and three alleles in the semen, suggesting that this chimerism is likely the outcome of a parthenogenetically activated oocyte fertilized by a Y and X sperm. The patient underwent intracytoplasmic sperm injection (ICSI) and resulted in a normal singleton pregnancy.

Conclusion: Individuals with 46,XX/46,XY chimerism in the gonad can display normal phenotype and fertility. NGS has proved to be a promising alternative to conventional chimerism assays.

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低通拷贝数变异测序和基于ngs的STR检测鉴定正常可育男性46、XX/46、XY嵌合

目的：描述一例罕见的正常可育男性，其外周血特异性组织分布为46，xx，性腺嵌合现象经新一代测序（NGS）方法证实。方法：细胞遗传学分析、低通拷贝数变异测序（CNV-seq）和基于ngs的短串联重复序列（STR）检测。结果：常规外周血核型为46，XX。淋巴细胞中期核的荧光原位杂交（FISH）分析证实46、XX和性别决定区Y （SRY）阴性。进一步的CNV-seq显示精液中存在Y染色体。基于ngs的STR测试在颊粘膜中发现了低水平的Y染色体，在精液中发现了三个等位基因，这表明这种嵌合可能是孤雌生殖激活的卵母细胞与Y和X精子受精的结果。患者接受卵胞浆内单精子注射（ICSI），结果是正常的单胎妊娠。结论：性腺46、XX/46、XY嵌合个体表型正常，生育能力正常。NGS已被证明是传统嵌合分析的一种有希望的替代方法。

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

Journal of Assisted Reproduction and Genetics 医学-妇产科学

CiteScore

5.70

自引率

9.70%

发文量

286

审稿时长

1 months

期刊介绍： The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species. The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.