This article talks about two adults, uncle and niece, who have partial trisomy 8 and partial monosomy 21. This is due to a familial balanced translocation on their 8 and 21 chromosomes. A translocation is when one segment of a chromosome becomes attached to a different chromosome. There's two types of translocations:
- Simple translocation - when only one segment of a chromosome moves to a different one)
- Reciprocal translocation - two different chromosomes exchange pieces
Fluorescence in situ hybridisation (aka FISH) was used to specifically see the chromosomal breakpoints in a more accurate manner. The first patient reviewed (the uncle) had mild mental retardation and facial dysmophism, while the niece's symptoms were much more severe. She had severe epilepsy, however, she did not have the facial dysmorphism. Why? When the data was compared to other trisomy 8 cases, it was found that the phenotype of partial trisomy 8p was a lot more "variable." This means that the phenotypes are unpredictable, explaining why the uncle and niece had different symptoms. It's very unfortunate that translocations for these individuals caused mental retardation.
This video talks all about mitosis, meiosis and sexual reproduction. It's from KhanAcademy, one of my favorite resources. Their videos are always really helpful. We all know about how a zygote is formed, all that basic stuff. One thing that I really loved was how he explained how zygotes actually become people. Most textbooks don't really go into that, so I found this really helpful. In addition, the speaker explained the basics of mitosis/meiosis in a very clear manner. He also talked about the topic of differentiation, which is how a zygote becomes a complex system of cells that make up our body!
Genetic mutations are also explained by the speaker. Mutations seem really complicated, and don't get me wrong, they are! However, he talks about mutations in a way that makes everything seem so simple. I was so incredibly impressed by this video that I watched two more, linked below.
All About Mitosis
All About Meiosis
My next useful material is this animation that talks about the cell cycle. I liked all the useful facts it gave. Did you know it takes 10 hours to replicate all of the nuclear DNA in your body? I didn't know that. And one thing that was really cool was the apoptosis animation. The author, Barbara did a great job explaining everything. After the G1 phase, one of the identical daughter cells exits the cell cycle to become a specialized cell, and the other stays in the bone marrow (hello stem cell!) to go through the cell cycle again.
I also loved the simplicity of this animation. It isn't incredibly long, but you will get a lot of "aha" moments.
This video talks all about mitosis, meiosis and sexual reproduction. It's from KhanAcademy, one of my favorite resources. Their videos are always really helpful. We all know about how a zygote is formed, all that basic stuff. One thing that I really loved was how he explained how zygotes actually become people. Most textbooks don't really go into that, so I found this really helpful. In addition, the speaker explained the basics of mitosis/meiosis in a very clear manner. He also talked about the topic of differentiation, which is how a zygote becomes a complex system of cells that make up our body!
Genetic mutations are also explained by the speaker. Mutations seem really complicated, and don't get me wrong, they are! However, he talks about mutations in a way that makes everything seem so simple. I was so incredibly impressed by this video that I watched two more, linked below.
All About Mitosis
All About Meiosis
My next useful material is this animation that talks about the cell cycle. I liked all the useful facts it gave. Did you know it takes 10 hours to replicate all of the nuclear DNA in your body? I didn't know that. And one thing that was really cool was the apoptosis animation. The author, Barbara did a great job explaining everything. After the G1 phase, one of the identical daughter cells exits the cell cycle to become a specialized cell, and the other stays in the bone marrow (hello stem cell!) to go through the cell cycle again.
I also loved the simplicity of this animation. It isn't incredibly long, but you will get a lot of "aha" moments.
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