Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication
As the development of molecular diagnostic methods, a large number of clinically relevant or disease-related copy number variations (CNVs) could be detected, and the demand for genetic counselling and clinical treatment is also increasing. For patients with pathogenic or likely pathogenic CNVs, prei...
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Frontiers Media S.A.
2025-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1522406/full |
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| author | Cuiting Peng Cuiting Peng Han Chen Han Chen Fan Zhou Fan Zhou Hong Yang Hong Yang Yutong Li Yutong Li Yuezhi Keqie Yuezhi Keqie Xu Zhao Xu Zhao He Wang He Wang Ting Hu Ting Hu Shanling Liu Shanling Liu Jun Ren Jun Ren Xinlian Chen Xinlian Chen |
| author_facet | Cuiting Peng Cuiting Peng Han Chen Han Chen Fan Zhou Fan Zhou Hong Yang Hong Yang Yutong Li Yutong Li Yuezhi Keqie Yuezhi Keqie Xu Zhao Xu Zhao He Wang He Wang Ting Hu Ting Hu Shanling Liu Shanling Liu Jun Ren Jun Ren Xinlian Chen Xinlian Chen |
| author_sort | Cuiting Peng |
| collection | DOAJ |
| description | As the development of molecular diagnostic methods, a large number of clinically relevant or disease-related copy number variations (CNVs) could be detected, and the demand for genetic counselling and clinical treatment is also increasing. For patients with pathogenic or likely pathogenic CNVs, preimplantation genetic testing (PGT) could provide a feasible path to prevent the inheritance of the genetic disorder in the offspring. In this study, we included a couple with 1q21.1 recurrent microduplication to conduct molecular diagnosis and PGT clinical application. The optical genome mapping (OGM) successfully verified the orientation and location of the microduplication, which further proved OGM as a promising approach for chromosomal anomalies detection with high resolutions. In PGT application, linkage-analysis-based PGT and high resolution PGT-A were simultaneously conducted for the pedigree and all the embryos. The results were consistent between linkage analysis and high resolution aneuploid analysis in the targeted region. One embryo that was absent of paternal 1q21.1q21.2 duplication was selected for further transplantation. This successful clinical practice in this study shed light for future molecular diagnosis and PGT application in tandem microduplications. |
| format | Article |
| id | doaj-art-eff8857a29dd42b48cf055667d54fa9f |
| institution | DOAJ |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-eff8857a29dd42b48cf055667d54fa9f2025-08-20T03:15:30ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-03-011610.3389/fgene.2025.15224061522406Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplicationCuiting Peng0Cuiting Peng1Han Chen2Han Chen3Fan Zhou4Fan Zhou5Hong Yang6Hong Yang7Yutong Li8Yutong Li9Yuezhi Keqie10Yuezhi Keqie11Xu Zhao12Xu Zhao13He Wang14He Wang15Ting Hu16Ting Hu17Shanling Liu18Shanling Liu19Jun Ren20Jun Ren21Xinlian Chen22Xinlian Chen23Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, ChinaAs the development of molecular diagnostic methods, a large number of clinically relevant or disease-related copy number variations (CNVs) could be detected, and the demand for genetic counselling and clinical treatment is also increasing. For patients with pathogenic or likely pathogenic CNVs, preimplantation genetic testing (PGT) could provide a feasible path to prevent the inheritance of the genetic disorder in the offspring. In this study, we included a couple with 1q21.1 recurrent microduplication to conduct molecular diagnosis and PGT clinical application. The optical genome mapping (OGM) successfully verified the orientation and location of the microduplication, which further proved OGM as a promising approach for chromosomal anomalies detection with high resolutions. In PGT application, linkage-analysis-based PGT and high resolution PGT-A were simultaneously conducted for the pedigree and all the embryos. The results were consistent between linkage analysis and high resolution aneuploid analysis in the targeted region. One embryo that was absent of paternal 1q21.1q21.2 duplication was selected for further transplantation. This successful clinical practice in this study shed light for future molecular diagnosis and PGT application in tandem microduplications.https://www.frontiersin.org/articles/10.3389/fgene.2025.1522406/fullpreimplantation genetic testingmicroduplicationnext-generation sequencingoptical genome mappingMARSALA |
| spellingShingle | Cuiting Peng Cuiting Peng Han Chen Han Chen Fan Zhou Fan Zhou Hong Yang Hong Yang Yutong Li Yutong Li Yuezhi Keqie Yuezhi Keqie Xu Zhao Xu Zhao He Wang He Wang Ting Hu Ting Hu Shanling Liu Shanling Liu Jun Ren Jun Ren Xinlian Chen Xinlian Chen Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication Frontiers in Genetics preimplantation genetic testing microduplication next-generation sequencing optical genome mapping MARSALA |
| title | Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication |
| title_full | Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication |
| title_fullStr | Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication |
| title_full_unstemmed | Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication |
| title_short | Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication |
| title_sort | molecular diagnosis and preimplantation genetic testing for chromosome 1q21 1 recurrent microduplication |
| topic | preimplantation genetic testing microduplication next-generation sequencing optical genome mapping MARSALA |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1522406/full |
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