Chromosome Disorders

Jessica - posted on 07/15/2012

I am so glad to find that there are other people out there like me i am only 19 years old and i am nearly 23 weeks pregnant they have told me my baby boy has a hole in hes heart and bent feet they also told me he has chromesome 7 and less chromesome 2 i dont no what theas meen but he is going to explain a little more face to face next week he told me bits over the forne chromesome 7 is about my babys organs wont grow properly and also a few othere problems and chromesome two means he could have learning dificulties a was wondering if there is any one els out there that could give me a little advice i am so scared the docters are suggesting me to termanate my pregnancy that is last i want to do.

Tonya - posted on 02/19/2012

My 18 month old daughter was diagnosed in December 2011 with 22Q11.2 Duplication. Blood work shows I do not have it but we are waiting to see the outcome of our youngest daughter's tests after she is born to test my fiancee. There isn't alot to know about this syndrome, but I am learning from others who have children with the same thing. Altho they are all affected so differently.

Summer - posted on 01/26/2012

Hi Rebecca,

I live in Canada, but my son has 12q deletions. If you ever want to talk or have questions Im happy to answer. You can find me on Facebook @ Summer Abbott-Parker. My son is 4 yrs old. Talk soon

Rebecca - posted on 01/26/2012

hi i have 2 daughters and 1 son aswell as my self that have chromosome 12q deletion long arm and have yet to talk to a family in the uk with the same condition.

Heather - posted on 06/07/2011

I found out that I am the one who pased both of them to him.

Mary Beth - posted on 06/03/2011

My son has a microdeletion at 17q21.31 along with a triplication at the 19th chromosome. There are only about 20 cases documented worldwide. We did not have any information until this past year. Apparently the field of genetics is finally catching up with our kids! My son has a "typical" twin sister. He was born with a cleft lip and palate, partial agenesis of the corpus collusum, an ASD & VSD; 2 holes in his heart, hypospadia, exotropia, bilateral hernias, along with additional issues. Mind you I was told my the Neurologist when my son was a baby that he would never walk, talk, do anything across his midsection. My son is now 13! He is walking, talking, running, can do things they never thought he would.

My thoughts and prayers are with you. I hope you find support for yourself and your son.

Summer - posted on 06/02/2011

My son has Chromosome 12q deletion. I really wish we had more information on his condition. It can be so frustrating trying to find information about your kids condition

Marcia - posted on 06/02/2011

Another site for chromosome disorders is Unique at www.rarechromo.org. My grandson has an extra chromosome which is rare. They have a lot of info on rare chromosome disorders.

Laura - posted on 05/31/2011

Contact the Chromosome Disorder Outreach Center. They have loads of information on many, many different disorders and a wonderful parents support network. www.chromodisorder.org/CDO/

Nikki - posted on 05/31/2011

Hi Heather,
My son also has the 22q11.2 deletion. He has another deletion too, but on the 16th chromosome, not the 15th. However there is a great website, http://www.c22c.org/ that talks a lot about disorders associated with 22q. I am not sure where you live, however there are numerous chapters on the website, so maybe there is a group in your area. Hopefully this can be helpful. Please let me know if you ever want to chat. I know raising a child with this deletion can be a challenge.
Nikki

Jessica - posted on 05/31/2011

Hi Heather, my oldest son has Prader-Willi Syndrome (PWS), which is a paternal deletion on 15q11 - 13. Deletions on the maternal side cause Angelman Syndrome. Have either of those syndromes been mentioned to you? Check out www.fpwr.org for info on PWS. I am a board member and would be happy to answer any questions.

Lisa - posted on 05/31/2011

It seems to be that way with a lot of them! My daughter has partial duplication of chromosome 8 and there is not really anything known about that either!!

Constance - posted on 05/27/2011

Sorry, wish I could be of some help. My son has Trisomy 9 mosaic. Good luck