Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery

@article{Neri2009DownSC,
  title={Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery},
  author={Giovanni Neri and John M Opitz},
  journal={American Journal of Medical Genetics Part A},
  year={2009},
  volume={149A}
}
  • G. Neri, J. Opitz
  • Published 1 December 2009
  • Biology, Medicine
  • American Journal of Medical Genetics Part A
Over the past some 160 years, the study of Down syndrome (DS) went from early efforts of differentiating it from cretinism (Séguin) to its establishment as a specific nosologic category of mental deficiency (Down) and subsequent attempts to infer its cause. DS was known to be an overwhelmingly sporadic disorder, concordant in MZ and discordant in DZ twins and associated with increased maternal reproductive age (Penrose). Beginning in the 1920s and based in part on phenotype analysis and early… 
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