Genetics Consult

Junebug060609

Had the consultation where we found out results on the testing DH and I had done regarding DSs known microdeletion. Turns out his is inherited... from his daddy.

Doc said 50/50 on if DD could have the same deletion, and that it may or may not present itself if she does.

thefuturemrskudla

Wow. How are you guys feeling?

Junebug060609

Honestly, I'm feeling relieved.  I did the testing so that the kids (and potentially my brothers since they are still TTC) would have the knowledge moving forward...but I was terrified of the mom guilt if the results pointed to me.  DH seems to be taking it pretty well...but I'm sure he is struggling with the knowledge that it came from him.  We haven't discussed it since (crazy evening with the kiddos), but I'm sure we will. 

It's scary that DD has 50% chance of the same deletion...but then again DH has the deletion and, overall, doesn't have any of the things associated with it (global developmental delays and severe speech delays including apraxia in many cases).  He says he talked later than most, but back then (late 70s) it was just assumed that was because his older siblings talked for him.  I do have concerns about her having it, not presenting, and then having a kid with it that does present (I hope that made sense)...so most likely when she's older we'll sit down and tell her what's going on and let her know of available testing.  I kind of wish the docs would just test her now to see if she has it so she'd have that knowledge down the road, but I understand why they won't do it if she's not showing signs. 

Oh and I should clarify: The doc said that this deletion is so rare that it isn't known if it could be tied to his ASD dx.  I kinda figured they'd say that.  Consulting with Dr Google made it clear that this particular deletion hasn't been well studied other than to find that genes tied to severe speech delays/apraxia and global delays are involved...both of which we already knew he was dealing with.

Princess_Lily

Genetics are so tricky, try not to worry yourself with your grandkids issues - but its good to know for the future.

We passed down DS' 3mcc through both of our recessive genes, but DD doesn't have it at all...go figure

cmcreighton1

Wow. At least you have a couple of answers.. Though it seems like more questions have come from it too. We have an appointment with a geneticist in April. I am very nervous, but I suspect that our son inherited it from his Dad. It is what it is though and I worry that our daughter might have inherited it as well. We will see..

ToastieSimons

Hugs. I am the carrier and gave my mutation to both my boys despite the 50/50 chance

Lois172000

Are we speaking of Down Syndrome or DiGeorge Syndrome. I am familiar with the deletion with DiGeorge. Not so much Downs syndrome.

Junebug060609

Lois172000 said:

Are we speaking of Down Syndrome or DiGeorge Syndrome. I am familiar with the deletion with DiGeorge. Not so much Downs syndrome.

Neither. That I know of anyways. It's a small deletion on the 12th chromosome. No name/syndrome that I know of, but the missing parts have a known correlation with global delays and apraxia of speech. DS has global delays, jury is still out on apraxia...but he for sure has a severe speech delay and motor planning issues with speech.

Also, isn't Down syndrome when there is an extra 21st chromosome rather than a deletion?

Lois172000

I saw DS and deletion in the same sentence and my brain went into medical mode not Dear Son. Lol
Not familiar with either you mentioned or the specifics of Downs syndrome. My daughter has a deletion of the 22nd chromosome. (DiGeorge, 22q, it has about 6 different names) I have lots of good resources there for new parents.
There are over 180 diognoses associated with 22q. It's a deletion which is what sparked my brain.

Junebug060609

Lois172000 said:

I saw DS and deletion in the same sentence and my brain went into medical mode not Dear Son. Lol
Not familiar with either you mentioned or the specifics of Downs syndrome. My daughter has a deletion of the 22nd chromosome. (DiGeorge, 22q, it has about 6 different names) I have lots of good resources there for new parents.
There are over 180 diognoses associated with 22q. It's a deletion which is what sparked my brain.

I'll have to look up my sons deletion number, but I believe it was 12p.