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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 440 - 443 (4page)
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초록· 키워드
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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. (Korean J Lab Med 2010;30:440-3)
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등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Brandt CA / 1994 / Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS) / J Med Genet 31 : 99 ~ 102
Feenstra I / 2007 / Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map / Am J Med Genet A 143A : 1858 ~ 186
Higgins AW / 2005 / Engineered human dicentric chromosomes show centromere plasticity / Chromosome Res 13 : 745 ~ 762
Lemyre E / 2001 / Stable non-Robertsonian dicentric chromosomes: four new cases and a review / J Med Genet 38 : 76 ~ 79
Lin CC / 2007 / Identification and characterization of a new type of asymmetrical dicentric chromosome derived from a single maternal chromosome 18 / Cytogenet Genome Res 119
Feenstra I / 2007 / Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map / Am J Med Genet A 143A : 1858 ~ 186
Higgins AW / 2005 / Engineered human dicentric chromosomes show centromere plasticity / Chromosome Res 13 : 745 ~ 762
Lemyre E / 2001 / Stable non-Robertsonian dicentric chromosomes: four new cases and a review / J Med Genet 38 : 76 ~ 79
Lin CC / 2007 / Identification and characterization of a new type of asymmetrical dicentric chromosome derived from a single maternal chromosome 18 / Cytogenet Genome Res 119
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