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

American Journal of Medical Genetics. Part a
Giovanni Neri, John M Opitz

Abstract

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 cytogenetic insights in Drosophilia, several clinicians (Halbertsma, Waardenburg, Bleyer, Fanconi) and the geneticist C.B. Davenport postulated that DS might be due to a chromosome abnormality; only Davenport, with T.S. Painter, made an actual attempt to perform a clinical/cytological study (with inconclusive results). It was only with the application of the methods of Belling (colchicine, squash preparations) and of T.C. Hsu (hypotonic solution) to PHA-treated cell cultures in the mid-late 1950s, that it became possible to study, accurately, the human karyotype and its aberrations, allowing Lejeune et al. and Jacobs et al. in 1959 to discover the cause of DS. Nowadays, aided with powerful molecular methods, it has become possible to attai...Continue Reading

References

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Citations

Nov 2, 2011·Developmental Neuroscience·Jennifer Keck-WherleyZygmunt Galdzicki
Oct 14, 2011·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Hong YinKevin E Bove
Oct 30, 2013·American Journal of Medical Genetics. Part a·Ginevra Zanni, John M Opitz
Jun 28, 2014·Studies in History and Philosophy of Biological and Biomedical Sciences·Ilana Löwy
Mar 6, 2015·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Bjorn BakkerFloris Foijer
Dec 23, 2016·Prenatal Diagnosis·Guido de WertDiana W Bianchi
Jun 11, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Christian Fausch, Christof Röösli
May 3, 2019·Critical Reviews in Clinical Laboratory Sciences·Valentina SasCiprian Tomuleasa

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