Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report

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 t...

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Autores principales: Balaguer, Nuria, Mateu-Brull, Emilia, Naja, Roy P., Nagi, Jara B., Milán, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789569/
https://www.ncbi.nlm.nih.gov/pubmed/33407713
http://dx.doi.org/10.1186/s13039-020-00523-0
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author Balaguer, Nuria
Mateu-Brull, Emilia
Naja, Roy P.
Nagi, Jara B.
Milán, Miguel
author_facet Balaguer, Nuria
Mateu-Brull, Emilia
Naja, Roy P.
Nagi, Jara B.
Milán, Miguel
author_sort Balaguer, Nuria
collection PubMed
description 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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spelling pubmed-77895692021-01-07 Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report Balaguer, Nuria Mateu-Brull, Emilia Naja, Roy P. Nagi, Jara B. Milán, Miguel Mol Cytogenet Case Report 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. BioMed Central 2021-01-06 /pmc/articles/PMC7789569/ /pubmed/33407713 http://dx.doi.org/10.1186/s13039-020-00523-0 Text en © The Author(s) 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Balaguer, Nuria
Mateu-Brull, Emilia
Naja, Roy P.
Nagi, Jara B.
Milán, Miguel
Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report
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 Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789569/
https://www.ncbi.nlm.nih.gov/pubmed/33407713
http://dx.doi.org/10.1186/s13039-020-00523-0
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