Results from some genetic testing /What's next?

[MomofJCW]

So we got the results last week and this is what they say:

The SNP microarray is the test used to detect very small differences in genetic material, including very small or deletions, On this test, it was found Jeremiah has interstitial duplication of chromosome 22 within band q11.2. This means that Jeremiah has a small amount of genetic material on the 22nd chromosome that appears in him three time, an opposed to the one copy that appears in most people. No other significant DNA copy number changes were detected under the present reporting criteria.
Micro duplications of 22q11.2 have been reported previously and physical features can vary. Some individuals with this micro duplications are asymptomatic, be we believe that the micro duplication may be contributing to Jeremiah's craniosynostosis and learning difficulties.

So I am still confussed about some things so I have to set up another appointment to talk about my concerns.

[cheryl2]

I hope you get some answers at the appointment.

[fitmomof2ae]

Interesting! We haven't had any genetic tests completed yet. We're going to wait until Adam is older. I hope you get the rest of your answers soon!

[MomofJCW]

We go for an explanation this Friday Nov. 11th.

[cheryl2]

Good luck tomorrow! Keep us posted.

[fitmomof2ae]

Good luck Friday! I hope the appt goes well.

[jjmc123]

Good luck!

[sproutgirl]

Good luck! I hope you are able to get some answers and that they explain things well for you. Keep us posted!

[MomofJCW]

Microduplication 22q11.2 is a relatively newly recognized syndrome. The doctor's give me as much information that they could find. I still don't know if Jeremiah's has a syndrome related to the cranio. At this point dad and I will need to get genetic testing done to see if he inherited this from one of us. If he did not we will need to do more testing on him.