Last Updated: October 31, 2022 Introduction to Beckwith-Wiedemann Syndrome Beckwith-Wiedemann syndrome (BWS) is the most well characterized disorder affecting growth that results from defects in the process of genomic imprinting. The overall frequency of BWS is 1 in...
Last Updated February 27, 2023 Introduction to Prader-Willi Syndrome Prader-Willi syndrome (PWS) was first described in 1887 by John Langdon Down who also identified Down syndrome. The full spectrum of PWS was reported in 1956 by Andrea Prader, Alexis Labhart, and...
Last Updated: August 3, 2023 Introduction to Angelman Syndrome Angelman syndrome (AS) is named after the English physician Harry Angelman who first described the disorder in 1965. He observed three children with a similar constellation of symptoms and he referred to...
Last Updated: September 15, 2022 Introduction to Imprinting Genomic imprinting refers to a genetic phenomenon whereby there is preferential expression of a gene from only one of the two parental alleles. This phenomenon of allele-specific expression results from...