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Child with 1q21.1 duplication

CNbrownlee Message
8 Oct 2012, 01:35 AM

My son has just been diagnosed with 1q21.1 microduplication. We have been having many problems from health to developmental, speech and mucles! I am kind of dumb founded as to what all this means! I am lost! Any advice or information any one can give me would help a great deal!! Thanks Cassandra
Supersunrise Message
19 Dec 2012, 08:29 AM

Hi, There's a really good website called Unique has an info leaflet about 1q21.1 microduplication. I found it really helpful. Hope you and your son are doing ok.
mwpotter Message
20 Dec 2012, 04:39 AM

My son also has 1q21 duplication, with similar challenges as yours. We just participated in a research study through Simons VIP that provided the most helpful battery of tests regarding autism, intelligence psychological and motor development. All expenses were paid for -- including travel meals and stipend for every member of my family. It was the only time we have ever had input and feedback from doctors and therapists who have ever encountered this particular rare genetic disorder. Fortunately, my son's symptoms are comparatively mild. He's 4 1/2 now, but has received special services for his learning delays since he was one. He is in a special need preschool now and we are hopeful he will be mainstreamed in 1st grade. He's quite intelligent, does not have autism, but struggles with fine motor, speech articulation, and impulse control. Hang in there!!
kristinaweis85 Message
3 Feb 2013, 05:17 AM

Hello my son is 3 and was diagnosed a year ago. He has sensory disorder, hard of hearing, epilepsy and is not walking yet. I have continued to look up information on his disorder but know the symptoms vary with each individual! I'm very interested to talk to other people that are familiar with this duplication!
jedgerle Message
5 Feb 2013, 08:55 PM

Supersunrise, Can you post the link to the website for Unique? Thank you
mwpotter Message
5 Feb 2013, 09:54 PM

Unique's homepage: Booklet on 1q21.1 microduplication:
mwpotter Message
5 Feb 2013, 10:04 PM

Also, here's the link to Unique's Facebook Page: And this is the link to the Simons VIP Connect Facebook Page: Info on the Simons VIP Research study on the links between chromosomal duplications and autism:
jedgerle Message
6 Feb 2013, 09:41 PM

Thank you!