Rare Chromosome Disorder Week

Rare Chromosome Disorder Awareness Week (was last week 11-17th) and I meant to post this then, it was a busy week. I just wanted to still post this for any members who have family or friends with Rare Chromosome Disorders, and to let everyone know they are thought of and appreciated. Rare Chromosome Disorders are a struggle for families, and the resources are scarce, for any families dealing with this, you are in my thoughts and prayers.


Wow! :flushed: I just took a few seconds to educate myself on this topic…

I thank my lucky stars every singe day that I’m as healthy as I’ve always been. I have much empathy for individuals and families who struggle every single day of their lives with issues such as described in the above article! :cry:


That means a lot to me Kinnik, I am part of the CDO network so raising awareness is one of my goals. I don’t post info about my family anywhere, but y’all are family so I figured why not. My son has a Chromosome Deletion on the first Pair (1q) and is missing 86 genes total, but because his particular deletion is not listed anywhere, it’s hard to find any relevant info. I’m really glad you read up on it, it really means a lot to me. Thanks Kinnik. :slight_smile:


Is it this one?


No Lolly, 1q deletions aren’t super rare themselves, it’s the sequence of numbers inside the deletion that makes it rare. Like for 1q21.1, the number 21 stands for the placement along the long arm. Think of a long line, the starting point of the line is like the number 1, the end of that line being the number 500, and a sequence in the middle of the line being number 19 to 30. Its his particular sequence on the long arm of 1q that hasn’t been recorded before, although I have found 4 kids with similar deletions, but not his exact sequence.


Wow, it must be so tough with it being so rare. Hopefully there is a lot of research being carried out?

I’m gonna read up some more - I didn’t realise how many different types there are, and probably many more yet to be discovered.

Thank you for sharing and hugs to you, your son and your family :kissing_closed_eyes:


So the chromosome deletion on the q arm is what has caused the 86 missing genes, like it’s deleted them from DNA?

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I had to pull out our old paperwork, the sequence is as follows (1q25.2q31.3) spanning approximately 19.7 megabases. The genes missing are contained in this sequence, like a missing chunk. 54 are known, 32 unknown genes (unmapped).


Thanks Lolly! He’s actually doing really well, all of his medications, surgeries, and therapies have been successful so we are quite lucky on that front. He’s such a happy kid, and prides himself on being silly.


Sounds like he chose just the right mom. :grinning:


Underanne, that’s the most perfect way of saying it. :slight_smile:.