 | ||||||
Microdeletion 17q21.31: Confusing Numbers; Even More Confusing Condition
Families from around the world will be traveling to Williamstown, New Jersey to meet with each other and Dr. David Koolen & Dr. Bert DeVries from the Netherlands, chromosome 17 research specialists, who are making a special trip to the United States to meet with nine American families to discuss research regarding microdeletion
Where: Williamstown, NJ
When: August 8, 2009 at noon
Who: Tom & Christina Egner, host
David A Koolen, M.D., Ph.D.
Department of Human Genetics, 849
Radboud University Nijmegen Medical Centre
Postbox 9101
6500 HB Nijmegen
Phone: +31 24 3668778
Fax: +31 24 3668774
The proper diagnosis: Chromosome 17q21.31 Microdeletion Syndrome
It is not the medical community’s fault. Like many genetic disorders, Microdeletion 17q21.31, is only beginning to receive recognition by the medical community after research conducted in the Netherlands has identified the disorder. A 17q21.31 microdeletion is a very rare genetic condition in which a tiny piece is missing from one of the 46 chromosomes. The tiny missing bit increases the possibility of developmental and speech delay and learning difficulties. But there is quite a lot of individual variation.
David A. Koolen and colleagues are investigating the genetic causes and symptoms associated with 17q21.31 microdeletion syndrome.
Participation in this study involves collecting medical information, photos, and gathering as much information as possible. In addition, they have some more fundamental questions to solve, that is, what is /are the genes (s) responsible for the problems in our children? In order to answer this question they would like to collect EBV cell-lines of the children with 17q21.31 microdeletion syndrome (two blood samples) and if possible of the parents. With these cells they can try to look for the differences in gene expression, which might give us a clue of the “disease”-mechanism.
Families from California, Texas, Mississippi, Indiana, New Jersey, Massachusetts and Australia, who are members of the C17 support group will be meeting with Drs. Koolen and DeVries at the home of Tom and Christina Egner in Williamstown, NJ, about two hours from New York City, on August 8.
Our 1st Annual C17 BBQ was a huge success. All of the kids had a great time! They made new friends, jumped in the bounce house, rode in a big red firetruck & even went swimming together. There was dancing, laughter, food & fun. And don't forget the tears of JOY coming from the parents.
A day we all wish..... never had to end!
All of the families would like to give a special thank you to Bert & David {the genetic research Drs. who traveled here from Holland}. They had a chance to see the children interact with each other & share some of their knowledge with us.
Tom & I would personally like to thank J&J Tent Rentals, Mikey G's Funtime Inflatables, & our townships Fire Chief RJ for bringing by the firetruck.
. . . . from around the World!
Friends & Family meet
Thank you to everyone who shared their beautiful photos.
