Wikisage, the free encyclopedia of the second generation and digital heritage, wishes you merry holidays and a happy new year!
Prader-Willi syndrome
Prader–Willi syndrome is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome[1]. It was first described in 1956 by Andrea Prader (1919–2001), Heinrich Willi (1900–1971), Alexis Labhart (1916–1994).
Links
Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation Mol Cytogenet. 2015; 8: 52.
Foti Francesca et al. 2015 Learning by observation and learning by doing in Prader-Willi syndrome Journal of Neurodevelopmental Disorders 7:6
References: |