What Is A Chromosome Micro-Deletion?


June is here!!

Do you know what that means?

Yes summer is here! But did you know that it’s also Candy Month and National Adopt a Cat Month. June 10th is Ball Point Pen Day, June 18th is both International Picnic Day and International Panic Day (did someone lose their kid at a picnic? Just kidding!) 

And of course Father’s Day is June 16th.

There are many other days in June for this or that. But I would like to introduce you to a special awareness week in June you may not have heard about.

June 16th-21st is the 6th Global Chromosome and Gene Disorder Awareness Week.

Why is this week important? It’s a great week to bring awareness to and to celebrate the families with members who have unique chromosome and gene disorders.

It’s important to my family because we are one of those families! 

You can always read our full story here. But today I would like to tell you about my son C’s unique chromosomes.

My son was born with unique 10th chromosome. There is no name for it. It’s just 10q25.1q25.3.

In simple terms what these numbers and letters mean is that a few tiny pieces of my son’s 10th chromosome got lost somewhere along the way while he was created. And how marvelously he was created may I add.

C has what is called a chromosome micro-deletion.

What is a chromosomal micro deletion?

According to sciencedirect.com:

Microdeletion syndromes involve chromosomal deletions that include several genes, but are too small to be detected by karyotype.

In other words in our case, C’s 10th chromosome has some genes missing. Those genes have to do with some physical characteristics as well as some delays that C has experienced developmentally. In C’s case this includes his diagnosis of ADHD as well as Autism.

https://www.rarechromo.org is an amazing website that has great information on unique chromosome syndromes and disorders.

We discovered C had this only when we did genetic testing just to rule out any abnormalities when he showed signs of delays. Well, we were quite surprised by this diagnosis but we would change our C for the world. 

Some ways C shows signs of 10q25.1q25.3

Born earlier at 38 weeks

Poor feeder, didn’t breast feed, didn’t like solid food

Speech and language delay

Bad eyesight

Learning delay

ADHD diagnosis

Autism diagnosis

Amazing memory

Overly friendly

To my family, our son C is perfect just the way he is. Just the way he was marvelously set apart in his mother’s womb by our God. We face challenges every day but we also have celebrations every day for the progress C continues to make.

C is an amazing and quite unique young man. I believe he can accomplish great things in his life.

microdeletion 10q25

So this awareness week of June 16th-21st lets celebrate our uniqueness and our differences. Show understanding and support to families that you know are living every day with the rare chromosome or gene disorder. Show compassion, show kindness, show love.

You got this, mama.

I give thanks to you that I was marvelously set apart. Your works are wonderful—I know that very well. – Psalm 139:14

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