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KMID : 0981820100300040440
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Korean Journal of Laboratory Medicine
2010 Volume.30 No. 4 p.440 ~ p.443
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A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis
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Cho Sun-Young
Lim Ga-Young
Kim So-Young
Kim Min-Jin
Lee Kyung-A
Choi Jong-Rak
Lee Hee-Joo
Suh Jin-Tae
Park Tae-Sung
Jung Eui
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Abstract
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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.
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KEYWORD
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Pseudoisodicentric, Isodicentric, Trisomy 18
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