Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology
Bittel DC, Butler MG.
Section of Medical Genetics and Molecular Medicine,
Children's Mercy Hospitals and Clinics,
University of Missouri-Kansas City School of Medicine,
2401 Gillham Rd, Kansas City, MO 64108, USA.
Expert Rev Mol Med. 2005 Jul 25;7(14):1-20.


Prader-Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of expression of paternally inherited genes known to be imprinted and located in the chromosome 15q11-q13 region. PWS is considered the most common syndromal cause of life-threatening obesity and is estimated at 1 in 10,000 to 20,000 individuals. A de novo paternally derived chromosome 15q11-q13 deletion is the cause of PWS in about 70% of cases, and maternal disomy 15 accounts for about 25% of cases. The remaining cases of PWS result either from genomic imprinting defects (microdeletions or epimutations) of the imprinting centre in the 15q11-q13 region or from chromosome 15 translocations. Here, we describe the clinical presentation of PWS, review the current understanding of causative cytogenetic and molecular genetic mechanisms, and discuss future directions for research.
Cognitive genetics
Human self-domestication
Brain size/human evolution
Selecting potential children
Transhumanism/Brave New World?
Beneficence, determinism and justice
'The Principle of Procreative Beneficence'
Francis Galton and contemporary eugenics
Gene therapy and performance enhancement
Gene therapy and performance enhancement
Transhumanism (H+): toward a Brave New World?
Mechanisms of imprinting of the Prader-Willi/Angelman region

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