De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review
Dear Editor, Trisomy 20p is a rare genetic disorder manifesting as intellectual disability, speech delay, specific facial features, and delayed motor milestones. Severity of the symptom depends on chromosome 20p duplication size; larger chromosomal duplications usually result in more serious symptom...
Saved in:
| Published in | Annals of laboratory medicine Vol. 40; no. 3; pp. 277 - 280 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Korea (South)
The Korean Society for Laboratory Medicine
01.05.2020
대한진단검사의학회 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 2234-3806 2234-3814 2234-3814 |
| DOI | 10.3343/alm.2020.40.3.277 |
Cover
| Abstract | Dear Editor, Trisomy 20p is a rare genetic disorder manifesting as intellectual disability, speech delay, specific facial features, and delayed motor milestones. Severity of the symptom depends on chromosome 20p duplication size; larger chromosomal duplications usually result in more serious symptoms [1]. Most previously reported cases involved partial trisomy 20p derived from a parental reciprocal translocation, chromosome inversion, or a small supernumerary marker chromosome (sSMC) [1-5]. However, only a few cases of pure trisomy 20p (involving whole short arm of chromosome 20) have been reported [1, 5-9]. KCI Citation Count: 1 |
|---|---|
| AbstractList | Dear Editor, Trisomy 20p is a rare genetic disorder manifesting as intellectual disability, speech delay, specific facial features, and delayed motor milestones. Severity of the symptom depends on chromosome 20p duplication size; larger chromosomal duplications usually result in more serious symptoms [1]. Most previously reported cases involved partial trisomy 20p derived from a parental reciprocal translocation, chromosome inversion, or a small supernumerary marker chromosome (sSMC) [1-5]. However, only a few cases of pure trisomy 20p (involving whole short arm of chromosome 20) have been reported [1, 5-9]. KCI Citation Count: 1 |
| Author | Kim, Myungshin Yoon, Soo-Young Eun, Baik-Lin Choi, Jungim Kwon, Jung Ah Park, Borae G. |
| AuthorAffiliation | 3 Department of Laboratory Medicine, Catholic University College of Medicine, Seoul, Korea 1 Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea 2 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea |
| AuthorAffiliation_xml | – name: 3 Department of Laboratory Medicine, Catholic University College of Medicine, Seoul, Korea – name: 1 Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea – name: 2 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea |
| Author_xml | – sequence: 1 givenname: Jungim orcidid: 0000-0001-9598-453X surname: Choi fullname: Choi, Jungim organization: Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea – sequence: 2 givenname: Soo-Young orcidid: 0000-0002-2302-3825 surname: Yoon fullname: Yoon, Soo-Young organization: Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea – sequence: 3 givenname: Borae G. orcidid: 0000-0001-9710-9253 surname: Park fullname: Park, Borae G. organization: Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea – sequence: 4 givenname: Baik-Lin orcidid: 0000-0001-8735-292X surname: Eun fullname: Eun, Baik-Lin organization: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea – sequence: 5 givenname: Myungshin orcidid: 0000-0001-8632-0168 surname: Kim fullname: Kim, Myungshin organization: Department of Laboratory Medicine, Catholic University College of Medicine, Seoul, Korea – sequence: 6 givenname: Jung Ah orcidid: 0000-0001-5321-7279 surname: Kwon fullname: Kwon, Jung Ah organization: Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31858772$$D View this record in MEDLINE/PubMed https://www.kci.go.kr/kciportal/ci/sereArticleSearch/ciSereArtiView.kci?sereArticleSearchBean.artiId=ART002579853$$DAccess content in National Research Foundation of Korea (NRF) |
| BookMark | eNp1kUtvEzEUhS1URB_0B7BBXsIiwa_xgwVSFV6VwkNRWCLL47lDTWbGwZ6k6r_H07QVIOHN9b0-57uSzyk6GuIACD2jZM654K9c188ZYWQuymDOlHqEThjjYsY1FUcPdyKP0XnOP0k5klBmyBN0zKmutFLsBH1_C_hz3Ef8dZcAr1PIsb_BjGxf4xVsYxpxbLGbJNDhhctw6D-5tIGEF1cp9rFYALuhwcswQnLjRFrBPsD1U_S4dV2G87t6hr69f7defJwtv3y4XFwsZ55LPs4omNp5o4jxUBmnpJStVo3QhjiiAahseKNc5WqmSS1Y3UgtdGWY8LQFqfkZenngDqm1Gx9sdOG2_oh2k-zFan1pjRSCqkn75qDd7uoeGg_DmFxntyn0Lt3cOv9-GcJV4eytNJyTagK8uAOk-GsHebR9yB66zg0Qd9kyzoziWtBJ-vzPXQ9L7v-_CNRB4FPMOUFrfRjdGOK0OnSWEjuFbUvYdgrbijKwJezipP847-H_9_wGsXurgQ |
| CitedBy_id | crossref_primary_10_1002_ccr3_3587 crossref_primary_10_1002_mgg3_2436 crossref_primary_10_2147_IJWH_S253885 crossref_primary_10_7759_cureus_61949 |
| Cites_doi | 10.3343/alm.2012.32.1.91 10.1111/j.1399-0004.1996.tb04325.x 10.1136/jmg.37.6.454 10.1002/ajmg.a.36921 10.1002/1096-8628(20001211)95:4<316::AID-AJMG4>3.0.CO;2-Z 10.1111/j.1399-0004.1992.tb03398.x 10.1002/ajmg.a.31704 10.1016/j.gene.2013.04.033 |
| ContentType | Journal Article |
| Copyright | The Korean Society for Laboratory Medicine 2020 The Korean Society for Laboratory Medicine |
| Copyright_xml | – notice: The Korean Society for Laboratory Medicine 2020 The Korean Society for Laboratory Medicine |
| DBID | AAYXX CITATION CGR CUY CVF ECM EIF NPM 7X8 5PM ACYCR |
| DOI | 10.3343/alm.2020.40.3.277 |
| DatabaseName | CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed MEDLINE - Academic PubMed Central (Full Participant titles) Korean Citation Index |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) MEDLINE - Academic |
| DatabaseTitleList | |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 2234-3814 |
| EndPage | 280 |
| ExternalDocumentID | oai_kci_go_kr_ARTI_9644178 PMC6933058 31858772 10_3343_alm_2020_40_3_277 |
| Genre | Case Reports |
| GroupedDBID | --- 5-W 53G 8JR 8XY 9ZL AAYXX ACYCR ADBBV AENEX ALMA_UNASSIGNED_HOLDINGS AOIJS BAWUL CITATION C~G DIK DYU ECGQY EF. EMOBN GX1 HYE KQ8 M48 PGMZT RPM ADRAZ CGR CUY CVF ECM EIF NPM 7X8 5PM M~E OK1 OZF |
| ID | FETCH-LOGICAL-c363t-1e9bac9709ce59a7666f87d4890a08ee16d3d7a5ab280b42bd68485924c1fe683 |
| IEDL.DBID | M48 |
| ISSN | 2234-3806 2234-3814 |
| IngestDate | Tue Nov 21 21:44:14 EST 2023 Thu Aug 21 14:14:23 EDT 2025 Fri Jul 11 06:52:21 EDT 2025 Mon Jul 21 05:47:38 EDT 2025 Tue Jul 01 03:11:35 EDT 2025 Thu Apr 24 23:07:25 EDT 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Language | English |
| License | This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c363t-1e9bac9709ce59a7666f87d4890a08ee16d3d7a5ab280b42bd68485924c1fe683 |
| Notes | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
| ORCID | 0000-0002-2302-3825 0000-0001-8735-292X 0000-0001-8632-0168 0000-0001-5321-7279 0000-0001-9710-9253 0000-0001-9598-453X |
| OpenAccessLink | http://journals.scholarsportal.info/openUrl.xqy?doi=10.3343/alm.2020.40.3.277 |
| PMID | 31858772 |
| PQID | 2329738418 |
| PQPubID | 23479 |
| PageCount | 4 |
| ParticipantIDs | nrf_kci_oai_kci_go_kr_ARTI_9644178 pubmedcentral_primary_oai_pubmedcentral_nih_gov_6933058 proquest_miscellaneous_2329738418 pubmed_primary_31858772 crossref_citationtrail_10_3343_alm_2020_40_3_277 crossref_primary_10_3343_alm_2020_40_3_277 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 2020-05-01 |
| PublicationDateYYYYMMDD | 2020-05-01 |
| PublicationDate_xml | – month: 05 year: 2020 text: 2020-05-01 day: 01 |
| PublicationDecade | 2020 |
| PublicationPlace | Korea (South) |
| PublicationPlace_xml | – name: Korea (South) |
| PublicationTitle | Annals of laboratory medicine |
| PublicationTitleAlternate | Ann Lab Med |
| PublicationYear | 2020 |
| Publisher | The Korean Society for Laboratory Medicine 대한진단검사의학회 |
| Publisher_xml | – name: The Korean Society for Laboratory Medicine – name: 대한진단검사의학회 |
| References | Sidwell (10.3343/alm.2020.40.3.277_ref7) 2000; 37 van Langen (10.3343/alm.2020.40.3.277_ref6) 1996; 49 Kang (10.3343/alm.2020.40.3.277_ref4) 2012; 32 Centerwall (10.3343/alm.2020.40.3.277_ref2) 1977; 20 10.3343/alm.2020.40.3.277_ref5 Izumi (10.3343/alm.2020.40.3.277_ref10) 2015; 167 Oppenheimer (10.3343/alm.2020.40.3.277_ref1) 2000; 95 Chaabouni (10.3343/alm.2020.40.3.277_ref8) 2007; 143A Bartolini (10.3343/alm.2020.40.3.277_ref9) 2013; 524 Grammatico (10.3343/alm.2020.40.3.277_ref3) 1992; 41 |
| References_xml | – volume: 32 start-page: 91 year: 2012 ident: 10.3343/alm.2020.40.3.277_ref4 publication-title: Ann Lab Med doi: 10.3343/alm.2012.32.1.91 – volume: 49 start-page: 49 year: 1996 ident: 10.3343/alm.2020.40.3.277_ref6 publication-title: Clin Genet doi: 10.1111/j.1399-0004.1996.tb04325.x – volume: 37 start-page: 454 year: 2000 ident: 10.3343/alm.2020.40.3.277_ref7 publication-title: J Med Genet doi: 10.1136/jmg.37.6.454 – volume: 167 start-page: 1289 year: 2015 ident: 10.3343/alm.2020.40.3.277_ref10 publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.36921 – volume: 95 start-page: 316 year: 2000 ident: 10.3343/alm.2020.40.3.277_ref1 publication-title: Am J Med Genet doi: 10.1002/1096-8628(20001211)95:4<316::AID-AJMG4>3.0.CO;2-Z – volume: 20 start-page: 77 year: 1977 ident: 10.3343/alm.2020.40.3.277_ref2 publication-title: Ann Genet – volume: 41 start-page: 285 year: 1992 ident: 10.3343/alm.2020.40.3.277_ref3 publication-title: Clin Genet doi: 10.1111/j.1399-0004.1992.tb03398.x – ident: 10.3343/alm.2020.40.3.277_ref5 – volume: 143A start-page: 1100 year: 2007 ident: 10.3343/alm.2020.40.3.277_ref8 publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.31704 – volume: 524 start-page: 368 year: 2013 ident: 10.3343/alm.2020.40.3.277_ref9 publication-title: Gene doi: 10.1016/j.gene.2013.04.033 |
| SSID | ssj0000601290 |
| Score | 2.1939266 |
| Snippet | Dear Editor, Trisomy 20p is a rare genetic disorder manifesting as intellectual disability, speech delay, specific facial features, and delayed motor... |
| SourceID | nrf pubmedcentral proquest pubmed crossref |
| SourceType | Open Website Open Access Repository Aggregation Database Index Database Enrichment Source |
| StartPage | 277 |
| SubjectTerms | Child, Preschool Chromosomes, Human, Pair 20 - genetics Comparative Genomic Hybridization Developmental Disabilities - diagnosis Developmental Disabilities - genetics Female Genetic Markers Humans Karyotype Letter to the Editor Trisomy - genetics 병리학 |
| Title | De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/31858772 https://www.proquest.com/docview/2329738418 https://pubmed.ncbi.nlm.nih.gov/PMC6933058 https://www.kci.go.kr/kciportal/ci/sereArticleSearch/ciSereArtiView.kci?sereArticleSearchBean.artiId=ART002579853 |
| Volume | 40 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| ispartofPNX | Annals of Laboratory Medicine, 2020, 40(3), , pp.277-280 |
| journalDatabaseRights | – providerCode: PRVCAB databaseName: Nutrition and Food Sciences Database customDbUrl: eissn: 2234-3814 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000601290 issn: 2234-3806 databaseCode: DYU dateStart: 20120101 isFulltext: true titleUrlDefault: https://www.cabidigitallibrary.org/product/zd providerName: CAB International – providerCode: PRVAFT databaseName: Open Access Digital Library customDbUrl: eissn: 2234-3814 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000601290 issn: 2234-3806 databaseCode: KQ8 dateStart: 20120101 isFulltext: true titleUrlDefault: http://grweb.coalliance.org/oadl/oadl.html providerName: Colorado Alliance of Research Libraries – providerCode: PRVBFR databaseName: Free Medical Journals customDbUrl: eissn: 2234-3814 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000601290 issn: 2234-3806 databaseCode: DIK dateStart: 20120101 isFulltext: true titleUrlDefault: http://www.freemedicaljournals.com providerName: Flying Publisher – providerCode: PRVFQY databaseName: GFMER Free Medical Journals customDbUrl: eissn: 2234-3814 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000601290 issn: 2234-3806 databaseCode: GX1 dateStart: 20120101 isFulltext: true titleUrlDefault: http://www.gfmer.ch/Medical_journals/Free_medical.php providerName: Geneva Foundation for Medical Education and Research – providerCode: PRVERR databaseName: KoreaMed Open Access customDbUrl: eissn: 2234-3814 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000601290 issn: 2234-3806 databaseCode: 5-W dateStart: 20120101 isFulltext: true titleUrlDefault: https://koreamed.org/journals providerName: Korean Association of Medical Journal Editors – providerCode: PRVAQN databaseName: PubMed Central customDbUrl: eissn: 2234-3814 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000601290 issn: 2234-3806 databaseCode: RPM dateStart: 20120101 isFulltext: true titleUrlDefault: https://www.ncbi.nlm.nih.gov/pmc/ providerName: National Library of Medicine – providerCode: PRVFZP databaseName: Scholars Portal Journals: Open Access customDbUrl: eissn: 2234-3814 dateEnd: 20250930 omitProxy: true ssIdentifier: ssj0000601290 issn: 2234-3806 databaseCode: M48 dateStart: 20120101 isFulltext: true titleUrlDefault: http://journals.scholarsportal.info providerName: Scholars Portal |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV3da9swEBdNC2MvY-s-mrUr2tjTwJltyZY8GGN07bqxlD00kJchZOnclqZ26yZj_e97VzlhKWGwJyP5ZOHTx_1Op7tj7K0rUciXwkcOJEQSvI60q3AzhITCrWUIocnBeXiUH47k93E2XmPz9FYdA69XqnaUT2rUTgZ_rm4-4YL_SBqnkOK9nZBLeRoPJFYMUqV6bAMFU0qTfNih_bAxz09dUCbKSOg4D3bO1V9ZklS9uq1WgdD7dyn_Ek4Hj9mjDlXyz2EaPGFrUG-yB8PObv6U_foC_Kj53fCfsxb4MeUdvLjhaXz5gQcEzpuKWyKBCd9DwRbK5MgDLacAuhcNNgFua89_LCIx82BZeMZGB_vHe4dRl1ghciIX0yiBorSuUHFBTlhWoQpTaeWlLmIba4Ak98Irm9ky1XEp09LnWuoMVTWXVJBr8Zyt100NW3QzChGAt5XXzskMgPCWL1yV-tw5oVSfxXMmGtdFHafkFxOD2gfx3SDfDfHdSKwwKTV5t2hyGUJu_Iv4DY6MOXdnhgJl0_OkMeetQXXgmykI7SndZ6_nA2dw9ZBJxNbQzK4N4slCCS0TpHkRBnLRJ_mVa1Q--kwtDfGCgDpcflOfnd5F6M7pmCjTL__nT7bZQyqHy5Q7bH3azuAVAp5puct6X8fJ7t1kvgWyXft7 |
| linkProvider | Scholars Portal |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=De+Novo+Pure+Trisomy+20p%3A+Report+of+a+Novel+Case+of+a+Marker+Chromosome+and+Literature+Review&rft.jtitle=Annals+of+laboratory+medicine&rft.au=Choi%2C+Jungim&rft.au=Yoon%2C+Soo-Young&rft.au=Park%2C+Borae+G.&rft.au=Eun%2C+Baik-Lin&rft.date=2020-05-01&rft.issn=2234-3806&rft.eissn=2234-3814&rft.volume=40&rft.issue=3&rft.spage=277&rft.epage=280&rft_id=info:doi/10.3343%2Falm.2020.40.3.277&rft.externalDBID=n%2Fa&rft.externalDocID=10_3343_alm_2020_40_3_277 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2234-3806&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2234-3806&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2234-3806&client=summon |