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AAT Bioquest

What are the limitations of karyotyping?

Posted August 16, 2023


Answer

One limitation is its inability to identify cryptic abnormalities. This means it may miss subtle or cryptic chromosomal abnormalities that aren't readily visible at the resolution level used in this method. These include small deletions or duplications. Other limitations include its inability to identify complex aberrations, and marker chromosomes accurately. Marker chromosomes are structurally abnormal chromosomes with unknown origin and thus are difficult to identify using karyotyping alone. Karyotyping also has a resolution limited to approximately 5-10 megabases, which means it cannot detect abnormalities smaller than this limit. This technique also uses G-banding which is readable only in a specific cell-cycle phase and depends on intact chromosomes with good morphology. An actively growing source of cells is also required when carrying out the procedure.

Additional resources

Karyotype

Gene Expression Analysis & Genotyping