Hi, folks -
I'm new here, but my son (who will be 4 next month) was just diagnosed with 1q21.1 duplication. My wife and I tested negative, and our eldest son is also negative.
From what we've read and discussed with our geneticist, our son's symptoms are comparatively mild. He was born with strabismus (crossed eyes) and had corrective surgery. He was also very prone to ear infections and had tubes. His speech development was delayed and he's been in speech therapy for articulation/intelligibilty since he was 1. He also had some motor delays but has largely overcome them to now test in the normal range. He is very bright, has a large vocabulary, and is very social and affectionate.
He's become much more impulsive and at times rather hyperactive, but we don't know if that just goes with his age or with his chromosomal abnormality... He also doesn't sleep all the way through the night with regularity. In recent months, he's only been able to put together one or two nights of solid sleep each week. The rest of the nights, he may wake four or five times at various times, calling out for his parents or simply crying out. Sometimes he's able to sooth himself back to sleep after 10 minutes, at other times we need to go in an reassure him. We're going on 4 years of this -- and we're exhausted!