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 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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