Application of bionano optical mapping for the diagnosis of a 16p11.2-p12.2 microdeletion
OBJECTIVE: To delineate chromosomal aberration caused by structural chromosomal abnormalities with bionano optical mapping.
METHODS: Chromosomal karyotyping, bionano optical mapping and copy number variation sequencing (CNV-seq) were used to delineate the chromosomal aberration carried by a patient.
RESULTS: The patient was found to have an anomalous chromosome 16 by karyotyping analysis, which was verified by bionano optical mapping and CNV-seq as loss of heterozygosity at 16p11.2-p12.2.
CONCLUSION: Bionano optical mapping has provided a novel tool for the detection and diagnosis of structural chromosomal aberrations.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:37 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 37(2020), 10 vom: 10. Okt., Seite 1167-1171 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Dai, Peng [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 19.11.2020 Date Revised 19.11.2020 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20190906-00458 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM314962026 |
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| 245 | 1 | 0 | |a Application of bionano optical mapping for the diagnosis of a 16p11.2-p12.2 microdeletion |
| 264 | 1 | |c 2020 | |
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| 500 | |a Date Completed 19.11.2020 | ||
| 500 | |a Date Revised 19.11.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To delineate chromosomal aberration caused by structural chromosomal abnormalities with bionano optical mapping | ||
| 520 | |a METHODS: Chromosomal karyotyping, bionano optical mapping and copy number variation sequencing (CNV-seq) were used to delineate the chromosomal aberration carried by a patient | ||
| 520 | |a RESULTS: The patient was found to have an anomalous chromosome 16 by karyotyping analysis, which was verified by bionano optical mapping and CNV-seq as loss of heterozygosity at 16p11.2-p12.2 | ||
| 520 | |a CONCLUSION: Bionano optical mapping has provided a novel tool for the detection and diagnosis of structural chromosomal aberrations | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Zhu, Chaofeng |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Ganye |e verfasserin |4 aut | |
| 700 | 1 | |a Dong, Xiangdong |e verfasserin |4 aut | |
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