finding people with rare chromo 2p

Danielle - posted on 12/09/2010 ( 16 moms have responded )

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hi 6 months ago I found out my son & I have 2p16.3 deletion & been looking for parents or children with this rare chromosome 2p16.3 deletion also called the NRXN1 sydrome theres 12 cases but cant find anyone with it in the world! please comment if you know thank you

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Heather - posted on 12/16/2010

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I have a son with a rare chromosome disorder called 9q34.3 Deletion Syndrome (now formally named Kleefstra Syndrome) When he was diagnosed 2 years ago I could find very little info on it or any others with the same syndrome. You can try Unique as mentioned www.rarechromo.org or also try Chromosome Disorder Outreach www.chromodisorder.org. Hope this helps!!

Erin - posted on 12/14/2010

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My son and I have DiGeorge Syndrome. It's not the same, but I understand your frustrations. Try the website, www.rarechromo.org. Hope it can help! Keep searching, and you will find something!

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Tantania - posted on 08/17/2011

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Hi my daughter who is 3 years old. She was born with 2p22.2p.23.3 deletion. There isn't much information I can't found anybody with this... Any advice or information please.

Constance - posted on 06/21/2011

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My youngest has CCA and I found support through the madison foundation.

www.madisonfoundation.com

Kendra - posted on 06/17/2011

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she has developmental delays, seizures, eye sight problems, asthma, she's had some hearing issues. she has 2p11.2p13 deletion. we just found out on the 16th so we are very new to this and are willing to learn as much as possible. do you know how many children are affected by this? i can't seem to find the stats on this oh and she turned 2 in march

Danielle - posted on 06/17/2011

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hi kenda does ur daughter have 2p16.3 deletion? how old is she & what affects has she got from this deletion?

Katy - posted on 06/12/2011

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Hi Danielle!
I was just doing a google search on 2p16.3 deletion because my son AND myself share this deletion. I can't believe there is someone else in this world with the same issue.
Katy

Danielle - posted on 02/21/2011

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wow your going through alot patti! my son has asthma,poor muscle tone, sleep apoena, global develop delays- about 18 months behind,speech delay,undesended testies- need operation to put them down,lose joints but havent had him checked out for that so I dont know why? my other two have no signs of the deletion yet? it is frustrating not knowing much or to know what we are in for in their future! im glad I have met you

Patti - posted on 02/17/2011

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She has Complex Partial Seizures, Hypothyroidism, Asthma, Migraines, GERD. In addition to her 2p deletion she (and my other 3 children) have Ehlers-Danlos Syndrome. It is a genetic conective tissue disorder. Carly was just reevaluated for Kindergarten and they have her scored at a cognitive level of an 8 month old. She can walk/run but doesnt have good fine motor skills or talk anymore. Her hands are always clenched together and in her mouth.
Tell me about your son. There is little to no information on this deletion and is so frustrating!

Danielle - posted on 02/10/2011

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wow patti That must be hard for you? my son is 5 & he has started talking in the last year now he speech moderate than sever,does your daughter have any medical problems?

Patti - posted on 02/10/2011

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My daughter has a 2p16.3 deletion (NRXN1) We have no information on this. So frustratimg. She is 4 almost 5. She went from about a 20 word vocab to nothing! she has regressed so much in less than a year.

Danielle - posted on 12/17/2010

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thank you to you both I have looked up all these web's & found all I can! now Id like to meet a family with this rare chromo Thank you again!

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