Chromosome 18q- deletion resources

When we got told our daughter had a Chromosome 18q- deletion we hunted the internet for information or insight about what the future could hold for her.  At the time there was very little information or what we did find was not always exactly about her deletion.  There are other Chromosomal disorders that can occur with the 18th chromosome but they are not all the same and so it became very important to find the right information.

CHROMOSOME 18Q - DELETION RESOURCES
CHROMOSOME 18Q – DELETION RESOURCES

Chromosome 18q- Deletion, has many different names which can make it even harder to keep track of information.  

It can also be known as:

  • De Grouchy Syndrome
  • 18q- Deletion Syndrome
  • Chromosome 18 long arm deletion syndrome
  • Monosomy 18q Syndrome
  • 18q deletion
  • Del (18q)syndrome
    There may even be more names…

Speaking to many professionals, including doctors, many have not heard of Chromosome 18q- Deletion. This is scary to comprehend. But they too can know very little.

So I decided to compile a list of resources that give information about it. I will update it as I come across more so make sure and bookmark/ pin this page or send to those who are involved in your childs care:

https://www.chromosome18.org/#

https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome

https://rarediseases.org/rare-diseases/chromosome-18q-syndrome/

http://www.rarechromo.org/information/Chromosome%2018/18q%20deletions%20from%2018q21%20and%20beyond%20FTNP.pdf

http://www.chromosome18eur.org

http://www.18q-adifferentkindofnormal.com

https://themighty.com/2016/03/when-a-doctor-said-my-childs-rare-diagnosis-wasnt-good-or-bad-news/

https://justjamesinfo.wordpress.com/rare-chromosome-disorders/18q/

http://cdn.netmums.com/bloggers/tags/chromosome-18q

http://shop.rnib.org.uk

www.Nystagmusnetwork.org