Re: New facts about BPES and women infertility problems

[Guest guest]

Hey Rob,

Then how does a couple have a 2nd child with BPES after there first wasn't born with it and it doesn't appear anywhere in there family??? Thats till confuses people....

Re: blepharophimosis Re: New facts about BPES and women infertility problems

> you either have BPES or you don't, you cannot be a carrier unless you > actually have it (been diagnosed with it /have the traits etc...)...Don't be too sure. I used to believe that too, until I heard about germline mosaicism on this forum.Rob W

[Guest guest]

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> If mother has germline mosaicism - this means that some portion of her eggs

> are affected (ie some eggs are affected, some not). However, if anyone

> wanted to find out what " how many " , the test would destroy the eggs. So

> nobody wants to do the test.

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> If dad has germline mosaicism - there are billions of sperm to test .. Too

> hard to test them all - even to test a sample is time consuming and

> expensive. Also - the test destroys the sperm.

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> I don't know how the number is calculated - but I know that it is hard to

> calculate, and it is low. Please don't quote me, instead think to yourself:

> next time I speak to my geneticist I will ask them to find out and tell me.

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> Based on what I recall, the percentage takes into account that not all eggs

> are affected / not all sperm are affected, and I don't remember if the less

> than 10% number is for conception or for birth.

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> There are some members of this group where neither mother nor father has any

> symptoms, but more than one child has BPES. Again - this is really really

> rare. So please will people remember that.

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> This helps to explain what we were told by a geneticist that if you have one

BPES child you have a VERY slightly higher chance than the rest of the

population of having another. The same genetic error - she likened it to a

letter missing from one word in a whole book - could be present in more than one

egg/sperm.

Caroline

Kent,UK