Trisomy 21: From Chromosomes to Mental Retardation

摘要: The first descriptions of the trisomy 21 phenotype were by Jean-Etienne-Dominique Esquirol (1838), Edouard Seguin (1846) and later John L. H. Down in 1862. It took more than a century to discover extra-chromosomal origin syndrome commonly called "Down's syndrome" which, we suggest, should be referred as "Trisomy 21". In this review are presenting landmarks, from pioneering description 1838 Jerome Lejeune's discovery genetic substrate for mental retardation. sequencing HSA21 was new starting point that generated transcriptome studies, have noted studies gene over-expression provided impetus discovering genes associated with cognitive impairment.