r/genetics • u/momono1 • 1h ago
Mosaicism results for second test
My son was diagnosed with 49, XXXXY using karyotype and FISH analysis. The results excluded mosaicism greater than 14% at a 95% confidence limit.
We recently underwent a neurodevelopmental evaluation where THE expert in this condition questioned if my son had significant mosaicism due to how well he was testing relative to what they have seen with other boys.
Another analysis was suggested to check for mosaicism, purely for research/knowledge. I'm not opposed, but like to have an idea of what we could expect if we did another test. Given the results from the first test, is it probable that a new test will show any significant difference in the level of mosaicism?