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In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
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[Down and his syndrome].

Jan van Gijn1, Joost P Gijselhart

  • 1Nederlands Tijdschrift voor Geneeskunde, Amsterdam, the Netherlands. jan@vangijn.com

Nederlands Tijdschrift Voor Geneeskunde
|October 27, 2011
PubMed
Summary
This summary is machine-generated.

John Langdon Down described children with Down syndrome in 1866. His work preceded the 1959 discovery of trisomy 21, confirming a genetic cause for the condition.

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Area of Science:

  • Medical History
  • Genetics
  • Developmental Pediatrics

Background:

  • John Langdon Haydon Down, a physician, established Normansfield, a private facility for children with intellectual disabilities.
  • Down's observations in the 19th century noted similarities in facial features among certain groups of children, which he termed 'mongoloid'.

Discussion:

  • Down's hypothesis of a 'unity of cause' for these observed similarities was prescient.
  • His liberal views on human unity contrasted with prevailing racial theories of the time.

Key Insights:

  • Down's 1866 description of 'mongoloid idiocy' is now recognized as Down syndrome.
  • The 1959 discovery of trisomy 21 validated Down's underlying assumption of a common etiological factor.

Outlook:

  • Normansfield, founded by Down, continued as a care and education facility until the 1970s.
  • The legacy of Down's clinical observations is significant in the history of understanding genetic conditions.