Patau's Syndrome

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 Patau's syndrome is actually by a chromatic aneuploidy, which means the addition of an extra chromosome. This is referred to as an abnormality, which is often responsible for genetic diseases within clinical genetics. Patau's syndrome specifically is caused by trisomy 13, in which there is a third chromosome 13. This is called a unbalanced Robertsonian translocation; unbalanced due to the chromosome abnormality, and a translocation because this chromosome is not actually at the 13 chromosome position in a karyotype, but in the chromosome 14 position.  
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Patau's syndrome is actually by a [[chromatic aneuploidy|chromatic aneuploidy]], which means the addition of an extra [[chromosome|chromosome]]. This is referred to as an abnormality, which is often responsible for genetic diseases within clinical genetics. Patau's syndrome specifically is caused by [[trisomy 13|trisomy 13]], in which there is a third [[chromosome 13|chromosome 13]]. This is called an [[unbalanced Robertsonian translocation|unbalanced Robertsonian translocation]]; unbalanced due to the chromosome abnormality, and a translocation because this chromosome is not actually at the 13 chromosome position in a [[karyotype|karyotype]] but in the [[chromosome 14|chromosome 14]] position.  
  
Patau's syndrome is a disease correlating with severe intellectual disability and physical abnormalities.
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Patau's syndrome is a disease correlating with severe intellectual disability and physical abnormalities<ref>US National Library of Medicine 2018 [cited 4/12/2018] Available from: https://ghr.nlm.nih.gov/condition/trisomy-13</ref><ref>US National Library of Medicine 2017 [cited 31/1/2017] Available from: www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms</ref>.  
  
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=== References  ===
  
 
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<references />
<u>References</u>
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[1] US National Library of Medicine 2018 [cited 4/12/2018] Available from: https://ghr.nlm.nih.gov/condition/trisomy-13<br> <br>[2] US National Library of Medicine 2017 [cited 31/1/2017] Available from: www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
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Latest revision as of 19:49, 10 December 2018

Patau's syndrome is actually by a chromatic aneuploidy, which means the addition of an extra chromosome. This is referred to as an abnormality, which is often responsible for genetic diseases within clinical genetics. Patau's syndrome specifically is caused by trisomy 13, in which there is a third chromosome 13. This is called an unbalanced Robertsonian translocation; unbalanced due to the chromosome abnormality, and a translocation because this chromosome is not actually at the 13 chromosome position in a karyotype but in the chromosome 14 position.

Patau's syndrome is a disease correlating with severe intellectual disability and physical abnormalities[1][2].

References

  1. US National Library of Medicine 2018 [cited 4/12/2018] Available from: https://ghr.nlm.nih.gov/condition/trisomy-13
  2. US National Library of Medicine 2017 [cited 31/1/2017] Available from: www.nichd.nih.gov/health/topics/down/conditioninfo/symptoms
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