>Joyce-- maybe you can clarify this for me. Can a mosaic pass on
>mosaicism? I thought I understood this before but I'm too worried to
>think straight. Apparently my granddaughter's doctor has raised this
>issue. I thought it had to be in my eggs in order for my
>children/grandchildren to have it. So if they test negative, then they
>really are negative. The doctor has told them she is negative
>for "full blown vhl" but can't rule out mosaic vhl. It's confusing and
>very upsetting. Also my adult daughter is going to her primary doctor
>on Wed. to get set up with a geneticist and get tested. Is there
>anything we should be doing specifically because of the mosaicism? By
>the way-I'm going for MRI's on the brain, cervical and lumbar on Thur.
>Wish me luck thanks, karen
>
cross-posted JWG
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Can a Mosaic pass on Mosaicism?
- By Beth
- Posted December 20, 2006 at 1:26 pm · 1 reply
- In First in the family: mosaic?
- Shared with the public
1 reply
- By Beth
- Posted December 20, 2006 at 1:26 pm
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Mosaicism is an anomaly that occurs only in one individual. It cannot be "passed down".
Mosaicism is a half-way point, if you will, between not having VHL and having it.
>>I thought it had to be in my eggs in order for my children/grandchildren to have it. So if they test negative, then they really are negative.
You are correct. At that point, it's a yes or no answer. Either they inherit the copy with the flaw or not.
>> The doctor has told them she is negative for "full blown vhl" but can't rule out mosaic vhl.
He's being ultra-precise and unnecessarily confusing. Your granddaughter has the same chance of having mosaic VHL as anyone else in the general population, which is so astronomically small that no one should spend any time worrying about it.
Mosaicism is a new concept, and genetics professionals are probably the only ones who will understand this properly. Most other doctors are as new to it as you are. I remember sitting in a conference in the Netherlands in 1997 when a doctor from Italy made a presentation about it. The other docs in the room were making fun of him for such a crackpot idea. Since then, though, it has become clear that it's very real.
Best wishes,
Joyce
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