Detection and analysis of genomic copy number variations in a 46,X0, +der(?) fetus by array-based comparative genomic hybridization / 基础医学与临床
Basic & Clinical Medicine
; (12): 144-150, 2010.
Article
en Zh
| WPRIM
| ID: wpr-440572
Biblioteca responsable:
WPRO
ABSTRACT
Objective To understand genomic copy number variations (CNVs) and ascertain karyotype for a 46,X0, + der(?) fetus, and investigate possibility and superiority of array-based comparative genomic hybridization (array-CGH ) in clinical cytogenetic diagnosis. Methods G-banded chromosome analysis was carried out. The whole genome of the fetus was scanned and analysed by array-CGH. The results of array-CGH were confirmed by RT-qPCR. Results G-banded chromosome analysis showed that the fetal karyotype was 46,X0, +der(?). Array-CGH revealed the derivative chromosome as Y chromosome without CNVs. A total number of 118 submicroscopic CNVs were identified. Comparable results between array-CGH and RT-qPCR were obtained for 9 novel CNVs. Conclusion Comparing with conventional cytogenetic analysis, array-CGH is of high resolution, high-throughput and high accuracy, which provides a technical platform for accurate detection of submicroscopic chromosomal aberrations.
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1
Índice:
WPRIM
Tipo de estudio:
Diagnostic_studies
Idioma:
Zh
Revista:
Basic & Clinical Medicine
Año:
2010
Tipo del documento:
Article