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Genetics of Cri du Chat 3

Page history last edited by Matthew Riggen 14 years, 5 months ago

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Genetics[1]

 

          Cri du chat syndrome is the result of the loss of a significant amount of genetic material from the short arm of chromosome 5. 5p15.2 is the critical region of the chromosome containing genes which are responsible for the main features of the syndrome:

 

http://www.criduchat.asn.au/criduchat/what.htm

 

          As you can see, the location of the deletion and the size of the deletion affects the severity of the syndrome. This is why cri du chat patients have such a spectrum of disability; while some only have mild developmental delay, others are crippled for life.

 

 Below is the karyotype of a patient with Cri du Chat Syndrome:

 

learn.genetics.utah.edu/.../whataregd/cdc/

 

Notice chromosome 5. It specifically is missing a portion of genetic material, which causes the genetic disorder.

 

The deletion of this portion of genetic material is usually spontaneous and therefore no specific cause can be identified.

 

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Footnotes

  1. Ivison, Bob. "What is Cri du Chat ?." Cri du Chat Support Group of Australia Inc.. 9 Mar. 2007. 26 Oct. 2009 . ▲

Comments (2)

rryoung@... said

at 10:07 am on Oct 29, 2009

HOW does this portion get deleted? Your missing some critical information on that part of the genetic disorder. Also, what does missing this portion mean - protein/nucleic acid-wise? Why does this cause the disorder?

Jacob Halbert said

at 10:21 am on Nov 4, 2009

i like this picture of the karyotype because it shows where this disorder occurs within it.

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