Discover and read the best of Twitter Threads about #22q11Day

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1/ #22q11DS is a rare genetic disorder. Due to the missing of a small piece of chromosome 22 (="deletion"), it can lead to a range of physical issues, most often affecting the heart, palate and immune system.

It can also impact the brain. How?
images.app.goo.gl/oKK5xqaVFDhVkC…
2/ The missing bit of chr22 contains amongst others instructions for the developing brain.

Imagine you are putting together an IKEA cabinet, but part of one page of the manual is missing.
images.app.goo.gl/g9Skks5aWbTimE…
3/ You'd be able to put it together, but likely with some difficulty. Maybe one of the doors doesn't close tightly, or a shelf is wobbly.
Likewise, 22q11DS can affect the development of the brain. This has consequences for the person with this genetic variant.
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