Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399405009531; 25 July 2005
Citation details: Douglas C. Bittel and Merlin G. Butler (2005) Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology.
Expert Rev. Mol. Med. Vol. 7, Issue 14, DOI: 10.1017/S1462399405009531

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

Douglas C. Bittel and Merlin G. Butler

Author contact details

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.

Full text online (purchase or subscribe through Cambridge Journals Online)

Free features associated with this article
Figure 1. Ideogram of chromosome 15, showing genes located in the typical deletion region of Prader–Willi syndrome.
Web, PDF
Figure 2. Microsatellite patterns representing different Prader–Willi syndrome genetic subtypes.
Web, PDF
Figure 3. Speculative diagram illustrating possible interconnected and interactive mechanisms leading to Prader–Willi syndrome.
Web, PDF
Table 1. Clinical characteristics of Prader–Willi syndrome.
Web, PDF
Table 2. Comparison of genetic subtypes in Prader–Willi syndrome.
Web, PDF

| home | search | glossary | links | sitemap | contact |

Expert Reviews in Molecular Medicine © Cambridge University Press ISSN 1462-3994 (Disclaimer and copyright)
Editorial Office: Centre for Applied Research in Educational Technologies (CARET), 1st Floor, 16 Mill Lane, Cambridge, CB2 1SB, UK. Tel: +44 (0)1223 765 375; Fax: +44(0)1223 765 505; E-mail: ermm@caret.cam.ac.uk