Friday, February 22, 2013

What Is A Chromosome Disorder?

What does Isaac have? 

The photo below may look like a bunch of worms, but they are actually Isaac's chromosomes. Most of us have 23 pairs of chromosomes (46 total) and each chromosome has a long and a short arm. A disorder you may be familiar with is Down Syndrome. With that on #21 there would be 3 arms instead of 2, which is why they call it Trisomy 21. Isaac has a very complex chromosome disorder. He has missing portion of material on the long arm of chromosome 10.  In addition to that he has extra material from the long arm of chromosome 14 filling in the space where the missing portion is on 10. Are you confused yet? In other words he has what is called an unbalanced translocation of chromosomes 10 and 14 or we like to call it a chromosome scramble. 

Why does he have it?  

There are many reasons why a person may be born with a chromosome disorder. Usually with a translocation like this, it's caused by a parent carrying a balanced translocation of similar chromosomes and passing it on to their offspring. This means that a normal, healthy person may have a chromosome disorder, but it's balanced so they don't even know that they have it until their offspring are born with a disorder. Since we had 3 miscarriages in between the 2 kids it's likely that those were caused by chromosome disorders too.

Did you know that?

Some chromosome disorders have been linked to certain cancers, mental health disorders and Autism. 

Was it something I ate? 

I actually had somebody ask me this question. A chromosome disorder does not have anything to do with something the Mother did or didn't do during her pregnancy. It happens at conception.

What about age? 

I was only 31, but chances are higher for a Mother to have a child born with a chromosomal abnormality if she is 35 and older. However, studies show that 80% of children born with Down Syndrome were born to a Mother 35 years of age and younger.

What do we know about his disorder?  

There is very little information. What we do know is he is likely to have developmental delay, growth problems, heart defects, orthopedic issues and craniofacial defects. The severity depends on the child. In Isaac's case because he has abnormalities with 2 chromosomes he can have several health and developmental issues.

Will he always have it? 

Some people thought that maybe he would just grow out of it, but Isaac was born this way so he will always have a chromosome disorder. Like I said to sister when trying to explain  it "You can't take the ingredients out of the cookie once it's been baked."

Here is a very important video that describes chromosome disorders even more. Just click on the link.

Understanding Chromosome Disorders 

Disclaimer: I'm not a medical Doctor. Everything I post here is information I've found online or through other sources. 


Anonymous said...


Long time lurker here, thanks for the explanation it was fairly easy to understand. If your going to be doing more fact fridays i'd be intersted in how isaacs chromosome disorder affects his development, what stage is he at, what age did he do certain things etc
Love your blog, carry on writing

The VW's said...

Great post! Isaac is truly unique! I love your special boy! Hugs!