Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman
Abstract Background The 18p terminal deletion with inverted duplication is an extremely rare chromosome structure abnormality and the common clinical manifestations include intellectual disability and speech delay, etc. Up to now, only three confirmed cases were reported in Europe, and here, for the...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.868 |
| _version_ | 1811326833778491392 |
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| author | Jianjiang Zhu Hong Qi Sha Cao Lirong Cai Xiaohui Wen Guodong Tang Qian Wan Chen Chen Juan Wang Wen Zeng Yao Luo |
| author_facet | Jianjiang Zhu Hong Qi Sha Cao Lirong Cai Xiaohui Wen Guodong Tang Qian Wan Chen Chen Juan Wang Wen Zeng Yao Luo |
| author_sort | Jianjiang Zhu |
| collection | DOAJ |
| description | Abstract Background The 18p terminal deletion with inverted duplication is an extremely rare chromosome structure abnormality and the common clinical manifestations include intellectual disability and speech delay, etc. Up to now, only three confirmed cases were reported in Europe, and here, for the first time in the Asian population, we report a case of de novo 18p inv‐dup‐del in a Chinese pregnant woman. This structural variation was accidentally discovered by the noninvasive prenatal testing (NIPT) during her prenatal examination. Methods Next generation sequencing (NGS) based copy number variations (CNVs) screening and karyotype analysis were performed to verify the type and heredity of the rearrangement, and the fluorescent in situ hybridization (FISH) analysis was also used to confirm the terminal deletion and inverted duplication. Results The patient has a de novo 18p11.31‐18p11.1 inverted duplication with a 6.2 Mb 18p terminal deletion. This rare chromosome imbalance, most likely caused by the U‐type exchange mechanism, resulted in the aberrant phenotype of mental disability, speech delay, seizure, and strabismus. However, the rearrangement was not inherited by her unborn child. Conclusion This report added a new type of variation to the spectrum of 18p terminal deletion with inverted duplication, and demonstrated that the maternal chromosome rearrangement discovered in NIPT should not just be consider as an interference factor but also a potential indicator of previously undiscovered pathogenic chromosome structure variations in pregnant women. |
| first_indexed | 2024-04-13T14:56:18Z |
| format | Article |
| id | doaj.art-8bb5d5b2e5fe4c5b9ad61affdbf4c8ea |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-13T14:56:18Z |
| publishDate | 2019-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-8bb5d5b2e5fe4c5b9ad61affdbf4c8ea2022-12-22T02:42:26ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-09-0179n/an/a10.1002/mgg3.868Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant womanJianjiang Zhu0Hong Qi1Sha Cao2Lirong Cai3Xiaohui Wen4Guodong Tang5Qian Wan6Chen Chen7Juan Wang8Wen Zeng9Yao Luo10Prenatal Diagnosis Center Beijing Haidian Maternal and Child Health Hospital Beijing P. R. ChinaPrenatal Diagnosis Center Beijing Haidian Maternal and Child Health Hospital Beijing P. R. ChinaAnnoroad Gene Technology Co. Ltd Beijing P. R. ChinaPrenatal Diagnosis Center Beijing Haidian Maternal and Child Health Hospital Beijing P. R. ChinaPrenatal Diagnosis Center Beijing Haidian Maternal and Child Health Hospital Beijing P. R. ChinaPrenatal Diagnosis Center Beijing Haidian Maternal and Child Health Hospital Beijing P. R. ChinaAnnoroad Gene Technology Co. Ltd Beijing P. R. ChinaAnnoroad Gene Technology Co. Ltd Beijing P. R. ChinaAnnoroad Gene Technology Co. Ltd Beijing P. R. ChinaPrenatal Diagnosis Center Beijing Haidian Maternal and Child Health Hospital Beijing P. R. ChinaPrenatal Diagnosis Center Beijing Haidian Maternal and Child Health Hospital Beijing P. R. ChinaAbstract Background The 18p terminal deletion with inverted duplication is an extremely rare chromosome structure abnormality and the common clinical manifestations include intellectual disability and speech delay, etc. Up to now, only three confirmed cases were reported in Europe, and here, for the first time in the Asian population, we report a case of de novo 18p inv‐dup‐del in a Chinese pregnant woman. This structural variation was accidentally discovered by the noninvasive prenatal testing (NIPT) during her prenatal examination. Methods Next generation sequencing (NGS) based copy number variations (CNVs) screening and karyotype analysis were performed to verify the type and heredity of the rearrangement, and the fluorescent in situ hybridization (FISH) analysis was also used to confirm the terminal deletion and inverted duplication. Results The patient has a de novo 18p11.31‐18p11.1 inverted duplication with a 6.2 Mb 18p terminal deletion. This rare chromosome imbalance, most likely caused by the U‐type exchange mechanism, resulted in the aberrant phenotype of mental disability, speech delay, seizure, and strabismus. However, the rearrangement was not inherited by her unborn child. Conclusion This report added a new type of variation to the spectrum of 18p terminal deletion with inverted duplication, and demonstrated that the maternal chromosome rearrangement discovered in NIPT should not just be consider as an interference factor but also a potential indicator of previously undiscovered pathogenic chromosome structure variations in pregnant women.https://doi.org/10.1002/mgg3.86818pchromosome recombinantinverted duplication and terminal deletionNIPT |
| spellingShingle | Jianjiang Zhu Hong Qi Sha Cao Lirong Cai Xiaohui Wen Guodong Tang Qian Wan Chen Chen Juan Wang Wen Zeng Yao Luo Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman Molecular Genetics & Genomic Medicine 18p chromosome recombinant inverted duplication and terminal deletion NIPT |
| title | Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman |
| title_full | Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman |
| title_fullStr | Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman |
| title_full_unstemmed | Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman |
| title_short | Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman |
| title_sort | detection of a rare de novo 18p terminal deletion with inverted duplication in a chinese pregnant woman |
| topic | 18p chromosome recombinant inverted duplication and terminal deletion NIPT |
| url | https://doi.org/10.1002/mgg3.868 |
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