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 |
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BMC
2021-01-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-020-00523-0 |
| _version_ | 1819279057214242816 |
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| author | Nuria Balaguer Emilia Mateu-Brull Roy P. Naja Jara B. Nagi Miguel Milán |
| author_facet | Nuria Balaguer Emilia Mateu-Brull Roy P. Naja Jara B. Nagi Miguel Milán |
| author_sort | Nuria Balaguer |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-24T00:21:51Z |
| format | Article |
| id | doaj.art-6415f15e081a41b8b76f29142bdb0cc9 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-24T00:21:51Z |
| publishDate | 2021-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-6415f15e081a41b8b76f29142bdb0cc92022-12-21T17:24:33ZengBMCMolecular Cytogenetics1755-81662021-01-011411510.1186/s13039-020-00523-0Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case reportNuria Balaguer0Emilia Mateu-Brull1Roy P. Naja2Jara B. Nagi3Miguel Milán4Igenomix Spain Lab S.L.U. Parque tecnológicoIgenomix Spain Lab S.L.U. Parque tecnológicoIgenomix UK Ltd, Surrey Technology CentreThe Centre for Reproductive & Genetic HealthIgenomix Spain Lab S.L.U. Parque tecnológicoAbstract 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.https://doi.org/10.1186/s13039-020-00523-0NIPTBone marrowcfDNASex-discrepancy |
| spellingShingle | Nuria Balaguer Emilia Mateu-Brull Roy P. Naja Jara B. Nagi Miguel Milán Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report Molecular Cytogenetics NIPT Bone marrow cfDNA Sex-discrepancy |
| title | Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report |
| title_full | Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report |
| title_fullStr | Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report |
| title_full_unstemmed | Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report |
| title_short | Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report |
| title_sort | chromosome y as a marker for sex discrepancies in patients with organ transplants a case report |
| topic | NIPT Bone marrow cfDNA Sex-discrepancy |
| url | https://doi.org/10.1186/s13039-020-00523-0 |
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