Disorder in the Court!

THERES DISORDER HERE!  

      There are so many sets of chromosomes... What happens when you lose some or gain some? There are many ways to explain it, but we're gonna do it my way. 

    What is a karyotype? This term is referring to the number and appearance of chromosomes. Of the appearance it can include the length, the centromere position, which is the point in which the chromosomes are bound together, and lastly the banding pattern. To obtain a view of an individual’s karyotype, cytologists photograph the chromosomes and then cut and paste each chromosome into a chart (concept to biology, 2017) 


There are many disorders that can come from changes in the chromosomes. 

To name a few :Albinism, Angelman syndrome, Ankylosing spondylitis, Apert syndrome, Charcot-Marie-Tooth disease, Congenital adrenal hyperplasia, Cystic fibrosis (CF), Down syndrome.  Disorders can be hereditary or a mutation. Inherited disorders may come up when chromosomes go through meiosis abnormally. 


The types of disorders in chromosomes are non disjunctions, deletions, and duplications. Nondisjunction is where the chromosomes or sister chromatids fail to separate in the stages of meiosis. “Nondisjunction could result in pregnancy loss or birth of a child with an extra chromosome in all cells, whereas nondisjunction in mitosis will result in mosaicism with two or more cell lines.” (Forejt, 2001)  Deletions are a mutation in which a part of a chromosome or a sequence of DNA is left out during replication. When deletions occur it can cause severe physical and intellectual disabilities. An example of a disorder that can occur from deletion is, the cat cry syndrome. Which is so-called because children with this syndrome often have a cry that sounds similar to a cat meowing. (Ganguly, 2022) Duplication is where a strand of dna is duplicated and shows up one after the other. An example of duplication is Charcot-Marie-Tooth disease, the most common cause of this disease is duplication of the PMP22 gene, located on chromosome 17. 


Joke of the blog: How do you tell X chromosomes from Y chromosomes?

 

You pull down their genes. HaHaHa 

 

Why is knowing about these different types of autosomal mutation cool? In my opinion I think knowing about each of these allows for someone to somewhat understand what others are going through and be able to see the problems that come with these disorders. Knowing people who have these different disorders helps for me to understand what struggles they go through on a daily basis. Like with the CMT Disease, I actually have a friend I bowl with who had this disease and he talked about it but never really went into detail. With this research i've done it has helped me understand many different strands of each different disease or disorder. 

Another one that ive come face to face with is autism. Although its not directly connected with chromosomes it can be considered a chromosomal disorder and that is because with some people with autism they are missing a strand of their 16th set of chromosomes. Autism is associated with duplication of chromosomes as well because of the 22nd set being duplicated, which is the biggest things in research with people with autism.

 

 

 

 

 

 

Genetic disorders. healthdirect. (n.d.). Retrieved October 10, 2022, from https://www.healthdirect.gov.au/genetic-disorders 

What is a chromosome disorder? @yourgenome · Science website. (2021, July 21). Retrieved October 10, 2022, from https://www.yourgenome.org/facts/what-is-a-chromosome-disorder/ 

Nondisjunction. Nondisjunction - an overview | ScienceDirect Topics. (n.d.). Retrieved October 10, 2022, from https://www.sciencedirect.com/topics/medicine-and-dentistry/nondisjunction 

Deletion. Genome.gov. (n.d.). Retrieved October 10, 2022, from https://www.genome.gov/genetics-glossary/Deletion 


 
Location: MMG8+JH Dubbo NSW, Australia

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