Diagnosis of an uncertain karyotype and mentally retarded child using the whole genome microarray scanning technique / 临床儿科杂志
Journal of Clinical Pediatrics
; (12): 1074-1077, 2013.
Article
in Zh
| WPRIM
| ID: wpr-441265
Responsible library:
WPRO
ABSTRACT
Objective To investigate the possibility and feasibility of the whole genome microarray scanning technique in clinical cytogenetic diagnosis of an uncertain karyotype and mentally retarded child. Methods The karyotype analysis of the mental development delayed child was 47, XY+mar. Genomic DNA was extracted from the peripheral blood and the whole genome microarray scanning technique was used to analyze the derivative chromosome. Results The whole genome microar-ray scanning technique indicated the derivative chromosome fragment had originated from 9p13.1-p24.3. Conclusions Com-paring to conventional cytogenetic analysis methods, the whole genome microarray scanning technique is of high resolution, high-throughput and high accuracy, which can detect the submicroscopic chromosomal aberrations and replace the conven-tional karyotype analysis.
Full text:
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Index:
WPRIM
Type of study:
Diagnostic_studies
Language:
Zh
Journal:
Journal of Clinical Pediatrics
Year:
2013
Type:
Article