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De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 이경아 | - |
dc.contributor.author | 이순민 | - |
dc.contributor.author | 이진성 | - |
dc.contributor.author | 이철 | - |
dc.contributor.author | 최종락 | - |
dc.contributor.author | 남궁란 | - |
dc.contributor.author | 박국인 | - |
dc.contributor.author | 박민수 | - |
dc.date.accessioned | 2015-04-24T16:58:22Z | - |
dc.date.available | 2015-04-24T16:58:22Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 1738-1061 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/104518 | - |
dc.description.abstract | The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1). | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 603~606 | - |
dc.language | Korean | - |
dc.publisher | 대한소아과학회 | - |
dc.relation.isPartOf | Korean Journal of Pediatrics | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence | - |
dc.title.alternative | De novo interstitial direct duplication 8(p21.3p23.1)을 보인 Pierre Robin sequence 1예 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Soon Min Lee | - |
dc.contributor.googleauthor | Min Soo Park | - |
dc.contributor.googleauthor | Kook In Park | - |
dc.contributor.googleauthor | Ran Namgung | - |
dc.contributor.googleauthor | Chul Lee | - |
dc.contributor.googleauthor | Jin Seong Lee | - |
dc.contributor.googleauthor | Kyung A Lee | - |
dc.contributor.googleauthor | Jong-Rak Choi | - |
dc.identifier.doi | 10.3345/kjp.2009.52.5.603 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A02905 | - |
dc.contributor.localId | A03253 | - |
dc.contributor.localId | A04182 | - |
dc.contributor.localId | A01241 | - |
dc.contributor.localId | A01438 | - |
dc.contributor.localId | A01468 | - |
dc.contributor.localId | A03227 | - |
dc.relation.journalcode | J02100 | - |
dc.identifier.eissn | 2092-7258 | - |
dc.subject.keyword | Duplication | - |
dc.subject.keyword | Pierre Robin sequence | - |
dc.subject.keyword | Trisomy 8p | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Lee, Soon Min | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.alternativeName | Lee, Chul | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.alternativeName | Namgung, Ran | - |
dc.contributor.alternativeName | Park, Kook In | - |
dc.contributor.alternativeName | Park, Min Soo | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Lee, Soon Min | - |
dc.contributor.affiliatedAuthor | Lee, Chul | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Namgung, Ran | - |
dc.contributor.affiliatedAuthor | Park, Kook In | - |
dc.contributor.affiliatedAuthor | Park, Min Soo | - |
dc.contributor.affiliatedAuthor | Lee, Jin Sung | - |
dc.citation.volume | 52 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 603 | - |
dc.citation.endPage | 606 | - |
dc.identifier.bibliographicCitation | Korean Journal of Pediatrics, Vol.52(5) : 603-606, 2009 | - |
dc.identifier.rimsid | 51081 | - |
dc.type.rims | ART | - |
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