Relate the characteristics of the most common chromosome abnormalties in human:

Human Anatomy & Physiology (11th Edition)
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ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
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Relate the characteristics of the most common chromosome abnormalties in human: Downs Syndrome and the first Physician that described the condition.

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Down Syndrome

The genetic disorder caused by the abnormal cell division resulting in an extra full or partial copy of choromome 21 is called Down Syndrome. Due to this extra genetic material, there are developemental changes and physical features of Down Syndrome.

Some of the most common features of Down Syndrome are : 

  • Flattened face
  • Short neck
  • Poor Muscle tone
  • protruding ongue
  • Small head
  • Short height etc etc.

Individuals with Down Syndrome are diagnosed before or at birth. They have mild to moderate cognitive impairment, like delayed language, affected both short term and long term memory etc.

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