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Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing
Chromosome rearrangement is one of the main causes of abortion. In individuals with double chromosomal rearrangements, the abortion rate and the risk of producing abnormal chromosomal embryos are increased. In our study, preimplantation genetic testing for structural rearrangement (PGT-SR) was perfo...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102332/ https://www.ncbi.nlm.nih.gov/pubmed/37065489 http://dx.doi.org/10.3389/fgene.2023.1132404 |
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author | Ren, Jun Keqie, Yuezhi Li, Yutong Li, Lingping Luo, Min Gao, Meng Peng, Cuiting Chen, Han Hu, Ting Chen, Xinlian Liu, Shanling |
author_facet | Ren, Jun Keqie, Yuezhi Li, Yutong Li, Lingping Luo, Min Gao, Meng Peng, Cuiting Chen, Han Hu, Ting Chen, Xinlian Liu, Shanling |
author_sort | Ren, Jun |
collection | PubMed |
description | Chromosome rearrangement is one of the main causes of abortion. In individuals with double chromosomal rearrangements, the abortion rate and the risk of producing abnormal chromosomal embryos are increased. In our study, preimplantation genetic testing for structural rearrangement (PGT-SR) was performed for a couple because of recurrent abortion and the karyotype of the male was 45, XY der (14; 15)(q10; q10). The PGT-SR result of the embryo in this in vitro fertilization (IVF) cycle showed microduplication and microdeletion at the terminals of chromosomes 3 and 11, respectively. Therefore, we speculated whether the couple might have a cryptic reciprocal translocation which was not detected by karyotyping. Then, optical genome mapping (OGM) was performed for this couple, and cryptic balanced chromosomal rearrangements were detected in the male. The OGM data were consistent with our hypothesis according to previous PGT results. Subsequently, this result was verified by fluorescence in situ hybridization (FISH) in metaphase. In conclusion, the male’s karyotype was 45, XY, t(3; 11)(q28; p15.4), der(14; 15)(q10; q10). Compared with traditional karyotyping, chromosomal microarray, CNV-seq and FISH, OGM has significant advantages in detecting cryptic and balanced chromosomal rearrangements. |
format | Online Article Text |
id | pubmed-10102332 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101023322023-04-15 Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing Ren, Jun Keqie, Yuezhi Li, Yutong Li, Lingping Luo, Min Gao, Meng Peng, Cuiting Chen, Han Hu, Ting Chen, Xinlian Liu, Shanling Front Genet Genetics Chromosome rearrangement is one of the main causes of abortion. In individuals with double chromosomal rearrangements, the abortion rate and the risk of producing abnormal chromosomal embryos are increased. In our study, preimplantation genetic testing for structural rearrangement (PGT-SR) was performed for a couple because of recurrent abortion and the karyotype of the male was 45, XY der (14; 15)(q10; q10). The PGT-SR result of the embryo in this in vitro fertilization (IVF) cycle showed microduplication and microdeletion at the terminals of chromosomes 3 and 11, respectively. Therefore, we speculated whether the couple might have a cryptic reciprocal translocation which was not detected by karyotyping. Then, optical genome mapping (OGM) was performed for this couple, and cryptic balanced chromosomal rearrangements were detected in the male. The OGM data were consistent with our hypothesis according to previous PGT results. Subsequently, this result was verified by fluorescence in situ hybridization (FISH) in metaphase. In conclusion, the male’s karyotype was 45, XY, t(3; 11)(q28; p15.4), der(14; 15)(q10; q10). Compared with traditional karyotyping, chromosomal microarray, CNV-seq and FISH, OGM has significant advantages in detecting cryptic and balanced chromosomal rearrangements. Frontiers Media S.A. 2023-03-31 /pmc/articles/PMC10102332/ /pubmed/37065489 http://dx.doi.org/10.3389/fgene.2023.1132404 Text en Copyright © 2023 Ren, Keqie, Li, Li, Luo, Gao, Peng, Chen, Hu, Chen and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Ren, Jun Keqie, Yuezhi Li, Yutong Li, Lingping Luo, Min Gao, Meng Peng, Cuiting Chen, Han Hu, Ting Chen, Xinlian Liu, Shanling Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing |
title | Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing |
title_full | Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing |
title_fullStr | Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing |
title_full_unstemmed | Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing |
title_short | Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing |
title_sort | case report: optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102332/ https://www.ncbi.nlm.nih.gov/pubmed/37065489 http://dx.doi.org/10.3389/fgene.2023.1132404 |
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