Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications

Table 1 Characters of the methods to detect genomic copy number variations

Characters	Advantages	Disadvantages
Fluorescence in situ hybridization	Numbers of the signals correspond to the genomic copy numbers	Small duplications cannot be detected
Quantitative polymerase chain reaction	Wide dynamic range	Primer designs are required for each targets
	Many samples can be analyzed at once
Multiple ligation probe amplification	Multiple targets can be analyzed at once	Original primer designs are required for specific regions
Chromosomal microarray testing	Accurate and high resolution	Chromosomal structures including balanced translocations cannot be analyzed
	Comprehensive

Table 2 Characteristics of microduplications

Characteristic	Recurrent microduplications	Random microduplications
Mechanism	Non-allelic homologous recombination	Random
	Mediated by locus control regions
Characteristics	Reciprocal to common deletions	Random
	Uniformed size