Application of microarray-based comparative genomic hybridization in prenatal and postnatal settings: three case reports.

Genetics Research International
Jing LiuJudy Chernos

Abstract

Microarray-based comparative genomic hybridization (array CGH) is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances). The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner.

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Citations

Nov 11, 2015·Proceedings of the National Academy of Sciences of the United States of America·Ai-Hua YinKang Zhang

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Methods Mentioned

BETA
Feature Extraction
eFISH
chromosomal aberrations

Software Mentioned

Cytosur
BlueGnome
Cytosure Syndrome Plus
Cytosurs
BlueFuse Multi
UCSC genome browser
Feature Extraction
CytoChip

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