A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 440-443, 2010.
Artigo
em Coreano
| WPRIM
| ID: wpr-77830
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Trissomia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 18
/
Centrômero
/
Ultrassonografia Pré-Natal
/
Idade Gestacional
/
Cariotipagem
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Coreano
Revista:
The Korean Journal of Laboratory Medicine
Ano de publicação:
2010
Tipo de documento:
Artigo
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