This month, people from all around the world affected by 22Q, whether they are a parent, carer, teacher, medical professional, or they themselves were born with 22Q; are working together to spread the word about 22Q. You can help us. Read our posts, visit the many 22Q websites to learn more, Google 22Q and of course share, share, share.
22Q has changed my family's life that is true, but it does not hold us back from having a good time. I've created a short video with some of these moments. It's my contribution to the current 22Q awareness campaign. As you will see, Sam's smile is infectious. Click on this link to watch it.
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| Sam with a Koala at the 2014 22Q Day at the Zoo. |
22Q 11.2 is the most prevalent genetic syndrome after Down syndrome, with approximately 1 in 2000 to 3000 births affected. Yet no one has heard of it. It's not until you are diagnosed or your child is diagnosed, that you suddenly realise how many people in the world live with it.
Here are a few more 22Q facts:
- 22Q is caused by a submicroscopic deletion of
genetic material from the long arm of chromosome 22
- 22Q is the most common genetic syndrome
associated with cleft palates
- 22Q is the second most common genetic syndrome
associated with congenital heart defects
- 95 - 99% of the 22Q population will have a
learning difficulty or disability
- 22Q has more than 180 anomalies or symptoms
associated with it
- 22Q is diagnosed through genetic blood tests.
These include FISH (fluorescence in situ hybridization), comparative
genomic hybridization (CGH), whole genome or SNP array.
Chromosome 22 showing the deletion on the q arm. 11.2 indicates the location on the q arm where the genetic material is missing.
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