A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis.
10.3343/kjlm.2010.30.4.440
- Author:
Sun Young CHO
1
;
Gayoung LIM
;
So Young KIM
;
Min Jin KIM
;
Kyung A LEE
;
Jong Rak CHOI
;
Hee Joo LEE
;
Jin Tae SUH
;
Tae Sung PARK
;
Eui JUNG
Author Information
1. Department of Laboratory Medicine, College of Medicine, Kyung Hee University, Seoul, Korea.
- Publication Type:English Abstract ; Case Report
- Keywords:
Pseudoisodicentric;
Isodicentric;
Trisomy 18
- MeSH:
Abnormalities, Multiple/diagnosis/*genetics;
Centromere;
*Chromosomes, Human, Pair 18;
Female;
Gestational Age;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis/*methods;
Trisomy;
Ultrasonography, Prenatal;
Young Adult
- From:The Korean Journal of Laboratory Medicine
2010;30(4):440-443
- CountryRepublic of Korea
- Language:Korean
-
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.
