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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...

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Autores principales: Ren, Jun, Keqie, Yuezhi, Li, Yutong, Li, Lingping, Luo, Min, Gao, Meng, Peng, Cuiting, Chen, Han, Hu, Ting, Chen, Xinlian, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
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.
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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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