Friday, August 21, 2009

46 xy del 5Q 14.3-14.3

We all probably learned about genes in biology. Some guy named Mendel I think. Something about sweet peas and cross breeding genes. I forgot about it, until Oskar was born and suddenly it became very relevant to me. When I tell people he has a chromosomal deletion, I get a lot of blank stares. A look I am sure i would have had myself two years ago. So here is short tutorial on human genetics as I understand them.

Our DNA is composed of 46 chromosomes. 23 pair. We get one from our dad and one from our mom. So we all have two 1st chromosomes, two second etc. They are the things you might remember from that biology class that look like are little worms. some are short, some are longer. Each chromosome carries a couple hundred genes organized in rows called bands. They are the little bits of information that determine our hair color, our eye color, height, I.Q. They switch off and on in the course of our development and our lifetime and make us who we are.

Every single cell in our body has this DNA in it. Every single cell has all this information in it's center.

In Oskar, ONE of his 5th chromosomes is missing one little line of this information. Band 14.3. 10 genes. Out of 20,000 in his DNA chain. It's amazing to me that this one tiny piece of information, missing on just one of his chromosomes can make such a difference. But it's missing in every single cell of his body and it has made all the difference

It makes you realize what a miracles we all are.

1 comment:

Anonymous said...

My name is Belinda and I have a son that is 16mths old and he has just been diagnosed with the exact same diagnosis as your son.

If you do not mind me asking does your son also have severe delayed development from this missing band in the chromosome. We only found out a week ago.

You may reach me at if you wish to chat.