Cited 4 times in
A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis
DC Field | Value | Language |
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dc.contributor.author | 이경아 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2015-04-23T17:11:13Z | - |
dc.date.available | 2015-04-23T17:11:13Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 1598-6535 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/101986 | - |
dc.description.abstract | Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe a case of pseudoisodicentric chromosome 18q without mosaicism, which was confirmed from fetal cells in the amniotic fluid used for prenatal diagnosis of multiple congenital anomalies. A 23-yr-old pregnant woman was suspected of having a fetal anomaly at 18(+3) weeks gestation. In sonography, the fetus showed multiple anomalies: bilateral overt ventriculomegaly in the brain, ventricular septal defect and valve anomaly in the heart, bilateral club foot, polydactyly, meningocele, and a single umbilical artery. The pregnancy was terminated and a conventional G-banded chromosome study was performed using amniotic fluid. Twenty metaphase cells among the cultured amniocytes showed a 46,XX,psu idic(18)(q22). Consequently, the fetus had partial trisomy (18pter-->q22) and partial monosomy (18q22-->qter). Both parents were confirmed to have a normal karyotype | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 440~443 | - |
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 | Abnormalities, Multiple/diagnosis | - |
dc.subject.MESH | Abnormalities, Multiple/genetics* | - |
dc.subject.MESH | Centromere | - |
dc.subject.MESH | Chromosomes, Human, Pair 18* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Gestational Age | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Karyotyping | - |
dc.subject.MESH | Pregnancy | - |
dc.subject.MESH | Prenatal Diagnosis/methods* | - |
dc.subject.MESH | Trisomy | - |
dc.subject.MESH | Ultrasonography, Prenatal | - |
dc.subject.MESH | Young Adult | - |
dc.title | A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학) | - |
dc.contributor.googleauthor | Sun Young Cho | - |
dc.contributor.googleauthor | Gayoung Lim | - |
dc.contributor.googleauthor | So Young Kim | - |
dc.contributor.googleauthor | Min Jin Kim | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Hee Joo Lee | - |
dc.contributor.googleauthor | Jin-Tae Suh | - |
dc.contributor.googleauthor | Tae Sung Park | - |
dc.contributor.googleauthor | Eui Jung | - |
dc.identifier.doi | 10.3343/kjlm.2010.30.4.440 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J02044 | - |
dc.identifier.pmid | 20805718 | - |
dc.subject.keyword | Pseudoisodicentric | - |
dc.subject.keyword | Isodicentric | - |
dc.subject.keyword | Trisomy 18 | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.citation.volume | 30 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 440 | - |
dc.citation.endPage | 443 | - |
dc.identifier.bibliographicCitation | KOREAN JOURNAL OF LABORATORY MEDICINE , Vol.30(4) : 440-443, 2010 | - |
dc.identifier.rimsid | 52638 | - |
dc.type.rims | ART | - |
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