Hi,
Apart from mix-up of sample and non-paternity, can mosaicism be the reason why a father is a premutation carrier and one of his daughters tested normal? (his other daughter is a carrier and has an affected male child).
Thanks
When you test blood for CGG repeats, you get the CGG number for both female alleles. Maybe it's a contraction of repeats?
Did you double check her test?
Thanks, yes her test showed a normal CGG repeat.
Hi Joanne,
Thanks for your interesting answers. Yes the question came from me.
Joseph
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