Murder victim in China had rare chimerism with male and female cells

Forensic tests on a murdered woman in China uncovered an extremely rare form of chimerism, where her body contained a mix of genetically male and female cells. The condition went unnoticed during her life, despite her having a son and typical female anatomy. Experts suggest it arose from a single egg fertilized by two sperm, leading to a unique genetic makeup.

The unidentified woman was killed by a gunshot in China, and initial analysis of blood at the crime scene detected a Y chromosome, prompting deeper genetic scrutiny. This revealed chimerism, a condition where an individual's body harbors cells from two distinct genetic lineages. In her case, tissues showed varying ratios of XX (female) and XY (male) cells: one hair sample was predominantly XY, her kidney had an even split, and the remaining 16 tissues were mostly XX.

Biologists explained that this likely stemmed from a single egg fertilized by two sperm—one carrying an X chromosome and the other a Y—resulting in what is known as trigametic chimerism. "This is a fascinating case but not completely unprecedented," noted David Haig at Harvard University. The woman's identical X chromosomes across cell types ruled out the fusion of non-identical twins as the cause.

Michael Gabbett at Queensland University of Technology in Brisbane dismissed an older theory that the egg divided before fertilization and fusion. Instead, he proposed that fertilization by two sperm created a cell with three chromosome sets, which replicated and divided, yielding two viable lineages and one that failed. Haig concurred with this explanation. The victim showed no ambiguous sexual characteristics and was probably unaware of her condition, much like most chimeras detected only through testing.

While microchimerism—cells exchanged between mother and fetus during pregnancy—is common, this trigametic form is exceptionally rare. The Chinese forensic team's extensive organ analysis marks the first such detailed study, as detailed in Forensic Science International: Genetics (DOI: 10.1016/j.fsigen.2025.103394). For comparison, visible chimerism appears in cases like singer Taylor Muhl, who advocates for awareness.

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