A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Choi, Y.-J. | - |
dc.contributor.author | Shin, E. | - |
dc.contributor.author | Jo, T.S. | - |
dc.contributor.author | Moon, J.-H. | - |
dc.contributor.author | Lee, S.-M. | - |
dc.contributor.author | Kim, J.-H. | - |
dc.contributor.author | Oh, J.-W. | - |
dc.contributor.author | Kim, C.-R. | - |
dc.contributor.author | Seol, I.J. | - |
dc.date.accessioned | 2022-07-15T18:28:03Z | - |
dc.date.available | 2022-07-15T18:28:03Z | - |
dc.date.created | 2021-05-13 | - |
dc.date.issued | 2016-02 | - |
dc.identifier.issn | 1738-1061 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/155147 | - |
dc.description.abstract | We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1?q44 (copy gain) and 18q21.33?18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | Korean Pediatric Society | - |
dc.title | A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Moon, J.-H. | - |
dc.contributor.affiliatedAuthor | Kim, C.-R. | - |
dc.identifier.doi | 10.3345/kjp.2016.59.2.91 | - |
dc.identifier.scopusid | 2-s2.0-84958063884 | - |
dc.identifier.bibliographicCitation | Korean Journal of Pediatrics, v.59, no.2, pp.91 - 95 | - |
dc.relation.isPartOf | Korean Journal of Pediatrics | - |
dc.citation.title | Korean Journal of Pediatrics | - |
dc.citation.volume | 59 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 91 | - |
dc.citation.endPage | 95 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.identifier.kciid | ART002079625 | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.subject.keywordPlus | growth hormone | - |
dc.subject.keywordPlus | Article | - |
dc.subject.keywordPlus | case report | - |
dc.subject.keywordPlus | chromosome translocation | - |
dc.subject.keywordPlus | comparative genomic hybridization | - |
dc.subject.keywordPlus | developmental disorder | - |
dc.subject.keywordPlus | face dysmorphia | - |
dc.subject.keywordPlus | fluorescence in situ hybridization | - |
dc.subject.keywordPlus | gene translocation | - |
dc.subject.keywordPlus | genetic disorder | - |
dc.subject.keywordPlus | growth retardation | - |
dc.subject.keywordPlus | hearing disorder | - |
dc.subject.keywordPlus | human | - |
dc.subject.keywordPlus | hypertelorism | - |
dc.subject.keywordPlus | male | - |
dc.subject.keywordPlus | microarray analysis | - |
dc.subject.keywordPlus | newborn | - |
dc.subject.keywordPlus | nuclear magnetic resonance imaging | - |
dc.subject.keywordPlus | patent ductus arteriosus | - |
dc.subject.keywordPlus | pediatric rehabilitation | - |
dc.subject.keywordPlus | white matter lesion | - |
dc.subject.keywordAuthor | 1q duplication | - |
dc.subject.keywordAuthor | 18q deletion | - |
dc.subject.keywordAuthor | Array comparative genomic hybridization | - |
dc.subject.keywordAuthor | Developmental delay | - |
dc.subject.keywordAuthor | Dysmorphism | - |
dc.identifier.url | https://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2016.59.2.91 | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
222, Wangsimni-ro, Seongdong-gu, Seoul, 04763, Korea+82-2-2220-1365
COPYRIGHT © 2021 HANYANG UNIVERSITY.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.