A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis

Sun Young Cho, Gayoung Lim, So Young Kim, Min Jin Kim, Kyunga Lee, Jong Rak Choi, Hee Joo Lee, Jin Tae Suh, Tae Sung Park, Eui Jung

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)440-443
Number of pages4
JournalKorean Journal of Laboratory Medicine
Volume30
Issue number4
DOIs
Publication statusPublished - 2010 Aug 1

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Amniotic Fluid
Chromosomes
Prenatal Diagnosis
Fetus
Single Umbilical Artery
Chromosomes, Human, 21-22 and Y
Meningocele
Polydactyly
Chromosomes, Human, Pair 18
Pregnancy
Chromosome Deletion
Mosaicism
Ventricular Heart Septal Defects
Trisomy
Metaphase
Karyotype
Chromosome Aberrations
Ultrasonography
Foot
Pregnant Women

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Cho, Sun Young ; Lim, Gayoung ; Kim, So Young ; Kim, Min Jin ; Lee, Kyunga ; Choi, Jong Rak ; Lee, Hee Joo ; Suh, Jin Tae ; Park, Tae Sung ; Jung, Eui. / A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis. In: Korean Journal of Laboratory Medicine. 2010 ; Vol. 30, No. 4. pp. 440-443.
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Cho, SY, Lim, G, Kim, SY, Kim, MJ, Lee, K, Choi, JR, Lee, HJ, Suh, JT, Park, TS & Jung, E 2010, 'A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis', Korean Journal of Laboratory Medicine, vol. 30, no. 4, pp. 440-443. https://doi.org/10.3343/kjlm.2010.30.4.440

A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis. / Cho, Sun Young; Lim, Gayoung; Kim, So Young; Kim, Min Jin; Lee, Kyunga; Choi, Jong Rak; Lee, Hee Joo; Suh, Jin Tae; Park, Tae Sung; Jung, Eui.

In: Korean Journal of Laboratory Medicine, Vol. 30, No. 4, 01.08.2010, p. 440-443.

Research output: Contribution to journalArticle

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AU - Lim, Gayoung

AU - Kim, So Young

AU - Kim, Min Jin

AU - Lee, Kyunga

AU - Choi, Jong Rak

AU - Lee, Hee Joo

AU - Suh, Jin Tae

AU - Park, Tae Sung

AU - Jung, Eui

PY - 2010/8/1

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N2 - 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.

AB - 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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