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A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism by Lin Chen; Li Wang; Yang Zeng; Daishu Yin; Feng Tang; Dan Xie; Hongmei Zhu; Lingping Li; Jing Wang is a Medicine article available to read on EtoBox.

What is A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism about?

Chimerism results from the fusion of two zygotes in a single embryo, whereas mosaicism results from mitotic errors in a single zygote. True human chimerism is rare, with fewer than 100 cases reported in the literature. Here, we report a case in which the fetus was identified as having tetragametic chimerism based on short tandem repeat - polymerase chain reaction analysis of the family observed during amniocentesis for advanced maternal age. The chimerism occurred via the fertilization of two ova by two spermatozoa, followed by the fusion of early embryos. The genotypes of the two amniotic fluid samples obtained successively by one puncture were completely different, and the sex chromosomes were XY. Karyotyping and copy number variation sequencing showed no abnormalities. The fetus was delivered at term and the phenotype of the newborn was normal.

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Author

Lin Chen; Li Wang; Yang Zeng; Daishu Yin; Feng Tang; Dan Xie; Hongmei Zhu; Lingping Li; Jing Wang

Publisher

BioMed Central

Published

2024

Language

EN

Field

Medicine (Health Sciences)