Welcome to Illinois

Explaining Mosaic Down’s syndrome

Posted in Genetics, Personal by Matt at WelcometoIllinois on January 17, 2009

Over at Mosaic Moments Kristy Colvin has published an interesting series of posts about Mosaic Down’s syndrome, knocking my ham-fisted attempt to explain it into a cocked hat.

The series of posts take in the genetics, misdiagnosis, getting a proper diagnosis, and the fact that many people with mosaic Down’s syndrome may be undiagnosed.

(UPDATE – The latest post explores the differences and similarities in the impact of mosaic and regular Down’s syndrome).

Interestingly, our portage worker who visited this week was under the impression that G has mosaic Down’s syndrome. Probably just some miscommunication, but given we still haven’t received his karyotype, I thought it was worth a mention.

Advertisements

One Response

Subscribe to comments with RSS.

  1. […] (For more on mosaic Down’s syndrome see this post) […]


Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: