It's all in the Genes...ya know?

So I have wonky DNA.
Crappy chromosomes.
A Balanced Translocation.
So does Braeden now. I passed my crappy chromsomes onto him.
And don't forget Ryley, he sure did get the raw end of the deal.

For those that don't know too much about chromosomes, here is a lesson for you.
I will call it...Crappy Chromosome Arrangements 101.

We all have 46 chromosomes. Or two pairs of 23. One long arm (q) and one short arm (p). And we inherit one of each of these pairs from our mother and our father. You should have all learnt this in science in Year 7-remember-school..!?
All of these chromosomes are numbered from 1 to 23, with 1 being the biggest chromosome with the largest amount of genetic material.

WHS affects chromosome 4. To be more specific, it affects the short arm (p). To be even more specific, to have a diagnosis of WHS, there needs to be a deletion in a critical region on that short arm-on the band 16.3.
WHS is often referred to as being only a part of a spectrum of disorders, also known has 4p- syndrome. Included is another disorder known as Pitts-Rogers-Danks Syndrome (PRDS). In fact, one of those doctors who has him name to PRDS (don't ask me which one, I can't remember) was actually a doctor at the RCH Melbourne.

Anyway. Back to my crappy chromsomes.
I have, what is known as a balanced translocation. So basically these means that some of my chromosome 4 and some of my chromosome 8 swapped places. No genetic material was lost. It is all balanced out.
So when it came to Ryley inheriting a pair of chromosomes, instead of inheriting both of my balanced ones, he inherited only one. Which has resulted in the WHS.
Clear as mud hey?
Probably not.
Hard to explain without a diagram really.
Braeden, on the other hand, has really struck it lucky and inherited my balanced translocation. So he will go on to have the same issues as me in terms of offspring. Which is basically, a 1 in 4 chance of having a child with WHS.
Let's hope by the time he is ready to reproduce there will be some new technology or something.

For more info look here: WHS Gene Review It probably explains it all better-though perhaps a little more scientifically.

Sometimes I wonder how useful all this genetic information is. I can't even begin to write about what it means knowing that I am the one who has passed this faulty stuff onto my children.


  1. It is wild how many people do not really understand genes and chromosomes. So, this is a good lesson. So often I have been asked "how do the doctors fix Norrah's condition?" And I think to myself that those asking must have really been asleep in their genetics classes in middle school and high school. IT CAN'T BE FIXED... it is in every cell in her body.

    We still do not have our results as to whether one of us was a "carrier" or not. Hmmmmm.

  2. Don't be too hard on yourself Anna. Think of all the GOOD things you have passed onto them. They are such beautiful, loving children.

  3. My Dave also has a balanced translocation between his 4th and 6th...hence Caitlin. Dave calls them his bodgy genes.


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