Hidayaturrahmi Hidayaturrahmi, Ni Wajan Tirthaningsih

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Fluorescent in situ hybridization techniques (FISH) is a molecular cytogenetic technique used to detect chromosomal abnormalities using fluorescence microscope. This technique bridges the gap between conventional metaphase chromosome analysis with molecular genetic analysis (DNA). FISH technique has sensitivity, specificity, and high speed in the implementation process, so that it becomes the technique of choice to detect the microdeletion and microduplication syndrome (deletion < 4Mb), along with mental retardation characteristic. FISH provide useful information for the genetic counseling of affected families. In general, FISH can be used to diagnose genetic disorders and estimate prognosis. However, FISH cannot be used as a screening test for chromosomal rearrangement.


FISH; genetic disorder; microdeletion; microduplication; kelainan genetik; mikrodelesi; mikroduplikasi

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