Autosomaal recessief 1/4?

Schinzel-Giedion Syndrome
#1

Hello,

Today I saw our genetic.
He doesn’t dare to give the garante that it’s gonadaal masocuisme. (lesser than 1/4) He doesn’t know if it’s autosomaal recessief (1/4)?
We gave blood of our boy and they will surch for an error.
He didn’t knew that there are women who determine there pregnancy already because they tought it was SGS. These baby’s are not probebly regestreted.??? He knew of one or two family’s with 2 sibs. I think there are more family’s?
Are there other family’s who tell there genetic that they had a miscarege? That they had to determine there pregnancy?
Are there other family’s who also gave blood of there baby’s to surch?

Thank you,

#2

Hi there
Here is what our geneticist stated in a letter he sent to us.
He thinks “Sofie’s SGS is a new genetic change present only in Sofie. In this circumstance the recurrence in a future pregnancy would be low, most likely significantly less than 1% although in some conditions the recurrence risk under these circumstances can be as high as 5%”. My husband and I are still not 100% convinced this is the case. I had a miscarriage at 12 weeks with my first pregnancy and now wonder if perhaps that baby had SGS, but we will never know as miscarriages occur in something like 1 in 4 pregnancies in all women anyway i think, so may have happened for a completley different reason. I think the issue we have with a future pregnancy is that we will never be 100% sure the baby is healthy until they are born, as our geneticist said there is no guarantee that a normal ultrasound could exclude the possibilty of another SGS baby either. We sent Sofies blood off to the Netherlands for research too, but it could be a long time before they discover the gene responsible I guess.
Leith : )

#3

Hi, we also sent DNA to the Netherlands for testing. It’s important that we all do that, as it’s the only way to get answers. The doctors do not know the percentages. It’s either 1 in 4 or less if a dominant gene. My wife had two miscarriages before our healthy son, then we had Luke. We just don’t know for sure yet, hence the DNA research in the Netherlands. We are undecided if we will try for a third child. The risk for another child with SGS is always there.

#4

I had a second pregnancy terminated at 22 weeks because there were indicators of sgs. That baby had a full post mortem and our geneticist says she is 99% sure it was sgs. This baby was also a girl. Now I am sitting here holding our healthy son and wonder why it affected 2 girls and not my boy. I know sgs is found in both genders but wonder if it affects one gender in a family.