Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
Abstract Background Integrated chromosome, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) analyses have been effective in defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH results are rarely reported. Methods Routine cytogeno...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-10-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.965 |
| _version_ | 1797301081056739328 |
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| author | Hongyan Chai Brittany Grommisch Autumn DiAdamo Jiadi Wen Pei Hui Peining Li |
| author_facet | Hongyan Chai Brittany Grommisch Autumn DiAdamo Jiadi Wen Pei Hui Peining Li |
| author_sort | Hongyan Chai |
| collection | DOAJ |
| description | Abstract Background Integrated chromosome, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) analyses have been effective in defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH results are rarely reported. Methods Routine cytogenomic analyses and literature review were performed in the study of a case from products of conception (POC). Results Chromosome and FISH analysis revealed a mosaic pattern consisting of a primary aberration of an inverted duplication of 5p and derived secondary and tertiary aberrations from sequential triplication and quintuplication of 5p, respectively. The aCGH analysis detected only a 1.521 Mb terminal deletion at 5p15.33 with no other pathogenic copy number variants in the genome. This mosaic karyotypic pattern likely resulted from chromosome instability induced by sequential breakage‐fusion‐bridge events during in vitro cell culture. A review of literature found heterogeneous distal deletion and inverted duplication of 5p in prenatal and pediatric cases. Conclusion This is the first case reported in POC with a unique mosaic pattern and discordant chromosome and aCGH results. Caution should be applied in reporting and interpreting these discordant results and further analysis for underlying mechanism should be considered. |
| first_indexed | 2024-03-07T23:17:17Z |
| format | Article |
| id | doaj.art-bd352115bac2407fa987a3f2a8e2f2e2 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:17:17Z |
| publishDate | 2019-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-bd352115bac2407fa987a3f2a8e2f2e22024-02-21T10:29:27ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-10-01710n/an/a10.1002/mgg3.965Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortionHongyan Chai0Brittany Grommisch1Autumn DiAdamo2Jiadi Wen3Pei Hui4Peining Li5Clinical Cytogenetics Laboratory Department of Genetics Yale University School of Medicine New Haven CT USAClinical Cytogenetics Laboratory Department of Genetics Yale University School of Medicine New Haven CT USAClinical Cytogenetics Laboratory Department of Genetics Yale University School of Medicine New Haven CT USAClinical Cytogenetics Laboratory Department of Genetics Yale University School of Medicine New Haven CT USADepartment of Pathology Yale University School of Medicine New Haven CT USAClinical Cytogenetics Laboratory Department of Genetics Yale University School of Medicine New Haven CT USAAbstract Background Integrated chromosome, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) analyses have been effective in defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH results are rarely reported. Methods Routine cytogenomic analyses and literature review were performed in the study of a case from products of conception (POC). Results Chromosome and FISH analysis revealed a mosaic pattern consisting of a primary aberration of an inverted duplication of 5p and derived secondary and tertiary aberrations from sequential triplication and quintuplication of 5p, respectively. The aCGH analysis detected only a 1.521 Mb terminal deletion at 5p15.33 with no other pathogenic copy number variants in the genome. This mosaic karyotypic pattern likely resulted from chromosome instability induced by sequential breakage‐fusion‐bridge events during in vitro cell culture. A review of literature found heterogeneous distal deletion and inverted duplication of 5p in prenatal and pediatric cases. Conclusion This is the first case reported in POC with a unique mosaic pattern and discordant chromosome and aCGH results. Caution should be applied in reporting and interpreting these discordant results and further analysis for underlying mechanism should be considered.https://doi.org/10.1002/mgg3.965breakage‐fusion‐bridgeinverted duplicationterminal deletion at 5p |
| spellingShingle | Hongyan Chai Brittany Grommisch Autumn DiAdamo Jiadi Wen Pei Hui Peining Li Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion Molecular Genetics & Genomic Medicine breakage‐fusion‐bridge inverted duplication terminal deletion at 5p |
| title | Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion |
| title_full | Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion |
| title_fullStr | Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion |
| title_full_unstemmed | Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion |
| title_short | Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion |
| title_sort | inverted duplication triplication and quintuplication through sequential breakage fusion bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion |
| topic | breakage‐fusion‐bridge inverted duplication terminal deletion at 5p |
| url | https://doi.org/10.1002/mgg3.965 |
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