Cited 7 times in
Down-Turner syndrome (45,X/47,XY,+21): case report and review
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 이경아 | - |
dc.date.accessioned | 2015-04-23T16:48:40Z | - |
dc.date.available | 2015-04-23T16:48:40Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 1598-6535 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/101270 | - |
dc.description.abstract | We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 195~200 | - |
dc.relation.isPartOf | KOREAN JOURNAL OF LABORATORY MEDICINE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Aneuploidy | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | Chromosome Banding | - |
dc.subject.MESH | Chromosomes, Human, Pair 21 | - |
dc.subject.MESH | Chromosomes, Human, X | - |
dc.subject.MESH | Chromosomes, Human, Y | - |
dc.subject.MESH | Down Syndrome/complications | - |
dc.subject.MESH | Down Syndrome/genetics* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | In Situ Hybridization, Fluorescence | - |
dc.subject.MESH | Karyotyping | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mosaicism* | - |
dc.subject.MESH | Trisomy | - |
dc.subject.MESH | Turner Syndrome/complications | - |
dc.subject.MESH | Turner Syndrome/genetics* | - |
dc.title | Down-Turner syndrome (45,X/47,XY,+21): case report and review | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Sook-Won Ryu | - |
dc.contributor.googleauthor | Goeun Lee | - |
dc.contributor.googleauthor | Cheong Soon Baik | - |
dc.contributor.googleauthor | Sung Han Shim | - |
dc.contributor.googleauthor | Jin-Tack Kim | - |
dc.contributor.googleauthor | Jung-Soo Lee | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.identifier.doi | 10.3343/kjlm.2010.30.2.195 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A02647 | - |
dc.relation.journalcode | J02044 | - |
dc.identifier.pmid | 20445340 | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.citation.volume | 30 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 195 | - |
dc.citation.endPage | 200 | - |
dc.identifier.bibliographicCitation | KOREAN JOURNAL OF LABORATORY MEDICINE , Vol.30(2) : 195-200, 2010 | - |
dc.identifier.rimsid | 49399 | - |
dc.type.rims | ART | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.