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

Authors

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

Published in

Journal of assisted reproduction and genetics. Jun 24, 2026. Epub Jun 24, 2026.

Abstract

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

PMID:
42337204
Bibliographic data and abstract were imported from PubMed on 24 Jun 2026.

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