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An SRY-deleted XXY female resulting from a paternally inherited t(Y;22)
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김호성 | - |
dc.contributor.author | 송재우 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2015-04-23T16:53:17Z | - |
dc.date.available | 2015-04-23T16:53:17Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 0091-7370 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/101417 | - |
dc.description.abstract | We report a case of a female with SRY-negative XXYp-. The karyotype by the conventional method revealed chromosome 22 with a short arm enlargement. The enlarged short arm contained a heterochromatic region, which was found by the whole chromosome painting method to be a part of the Y chromosome without the P arm. Chromosome study of the parents revealed that the t(Y;22) chromosome was derived from the patient's father who was phenotypically normal. Although the Y fragment was transmitted in patrilinear fashion in this case, our patient with intact copies of both X chromosomes and the Y chromosome with a deleted p arm is expected to show normal fertility. However, the patient should be closely followed in regard to fertility and the possibility of developing a gonadoblastoma. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 295~299 | - |
dc.relation.isPartOf | ANNALS OF CLINICAL AND LABORATORY SCIENCE | - |
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 | Child | - |
dc.subject.MESH | Chromosomes, Human, Pair 22/genetics* | - |
dc.subject.MESH | Chromosomes, Human, X/genetics* | - |
dc.subject.MESH | Chromosomes, Human, Y/genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Gene Deletion* | - |
dc.subject.MESH | Genetic Predisposition to Disease* | - |
dc.subject.MESH | Gonadoblastoma/genetics | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | In Situ Hybridization, Fluorescence | - |
dc.subject.MESH | Karyotyping | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Prognosis | - |
dc.subject.MESH | Sex-Determining Region Y Protein/genetics* | - |
dc.title | An SRY-deleted XXY female resulting from a paternally inherited t(Y;22) | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Juwon Kim | - |
dc.contributor.googleauthor | Sun-Hee Kim | - |
dc.contributor.googleauthor | Jaewoo Song | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Ho-Seong Kim | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01184 | - |
dc.contributor.localId | A02054 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00155 | - |
dc.identifier.eissn | 1550-8080 | - |
dc.identifier.pmid | 20689145 | - |
dc.identifier.url | http://www.annclinlabsci.org/content/40/3/295.long | - |
dc.subject.keyword | chromosome 22 | - |
dc.subject.keyword | SRY-deleted XXY female | - |
dc.subject.keyword | precocious puberty | - |
dc.contributor.alternativeName | Kim, Ho Seong | - |
dc.contributor.alternativeName | Song, Jae Woo | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Kim, Ho Seong | - |
dc.contributor.affiliatedAuthor | Song, Jae Woo | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.citation.volume | 40 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 295 | - |
dc.citation.endPage | 299 | - |
dc.identifier.bibliographicCitation | ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.40(3) : 295-299, 2010 | - |
dc.identifier.rimsid | 51042 | - |
dc.type.rims | ART | - |
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