Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report
Abstract Background Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce. Case A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was compa...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-01-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-020-00523-0 |
| Summary: | Abstract Background Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce. Case A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was comparable to an adult male reference. As a result, cfDNA testing was only informative for autosomes. Routine 20-week ultrasound scan showed no structural alterations and the presence of female external genitalia. Post-clinical research revealed that the patient received a bone marrow transplant from a male donor several years before. Fluorescence in situ hybridization showed that 100% of nuclei analysed from the patient’s lymphocytes presented a ChrY. Conclusion This case demonstrates ChrY can be used as a marker to avoid sex discrepancies in certain patients with organ transplants. |
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| ISSN: | 1755-8166 |