It's called Chromosome 2q36 Terminal Deletion. No fancy name, it just is what it is. Sometimes a chromosome disorder will give a similar pattern of problems. If enough children are born with this similar pattern, then it can be called a syndrome. It gets a fancy name, like Down Syndrome, and more people learn about it and become less scared of it. But my disorder doesn't have a pattern. It's just me. I'm laying the ground rules, just how I like it!
So, here's your science lesson for the day. The human body is made up of billions of cells. Inside the cells are chromosomes, which contain the genes. Genes are the instructions that tell the body how to develop and work properly. Every cell normally contains 23 pairs of chromosomes, or 46 all together (we get 23 from our mommy and 23 from our daddy). This is how Mommy explains to people that there is no cure for a chromosome disorder: It is in every cell in my body. It's part of my DNA. People seem to understand that better because of CSI and other TV shows.
Each chromosome is made up of a long part (or arm), labeled "q", and a short arm labeled "p". Those arms are also divided into many different sections, labeled with numbers. So, here's where my uniqueness comes in. My affected chromosome is the long arm of chromosome 2. I am missing the last two little sections, 36 and 37. That's what the word "terminal" means in the name of my disorder: to the end of the chromosome.
Sometimes, for those who know the lingo, Mommy writes the words de novo at the end of the disorder name. This means it was not inherited from Mommy or Daddy. The doctors say it was "just a fluke." That's a medical term, I guess. Now you can see how all chromosome disorders are different. One time a nurse apparently thought the name of my disorder was too complicated, so she wrote "Down Syndrome" instead. As if we are all the same! Even two people with the same disorder can be very different, because the actual breakpoints in the chromosome might be many genes apart. Plus their environment is a factor in their development too.
A karyotype is a person's chromosomal make-up. If you are a normal female, it is 46,XX. If you are a normal male, it is 46,XY. My karyotype looks very different. It is
So, here's your science lesson for the day. The human body is made up of billions of cells. Inside the cells are chromosomes, which contain the genes. Genes are the instructions that tell the body how to develop and work properly. Every cell normally contains 23 pairs of chromosomes, or 46 all together (we get 23 from our mommy and 23 from our daddy). This is how Mommy explains to people that there is no cure for a chromosome disorder: It is in every cell in my body. It's part of my DNA. People seem to understand that better because of CSI and other TV shows.
Each chromosome is made up of a long part (or arm), labeled "q", and a short arm labeled "p". Those arms are also divided into many different sections, labeled with numbers. So, here's where my uniqueness comes in. My affected chromosome is the long arm of chromosome 2. I am missing the last two little sections, 36 and 37. That's what the word "terminal" means in the name of my disorder: to the end of the chromosome.
Sometimes, for those who know the lingo, Mommy writes the words de novo at the end of the disorder name. This means it was not inherited from Mommy or Daddy. The doctors say it was "just a fluke." That's a medical term, I guess. Now you can see how all chromosome disorders are different. One time a nurse apparently thought the name of my disorder was too complicated, so she wrote "Down Syndrome" instead. As if we are all the same! Even two people with the same disorder can be very different, because the actual breakpoints in the chromosome might be many genes apart. Plus their environment is a factor in their development too.
A karyotype is a person's chromosomal make-up. If you are a normal female, it is 46,XX. If you are a normal male, it is 46,XY. My karyotype looks very different. It is
46,XX,del(2)(q36qter) de novo
Now that you know all about chromosomes, can you figure out what my karyotype means? Good luck!
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