Volume 35, Issue 4 pp. 335-337

The diagnosis of Prader–Willi syndrome

A Smith,

A Smith

Department of Cytogenetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia

Search for more papers by this author

A Smith,

A Smith

Department of Cytogenetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia

Search for more papers by this author

First published: 28 February 2002

https://doi.org/10.1046/j.1440-1754.1999.00396.x

Citations: 14

Dr A Smith Department of Cytogenetics, Royal Alexandra Hospital for Children, Hawkesbury Road, Westmead, NSW 2145, Australia. Fax: (02) 9845 3238; email: [email protected]

Share a link

Email
Wechat
Bluesky

Abstract

Abstract: The methylation test can make the diagnosis of Prader–Willi syndrome (PWS) in approximately 99% of patients and is confirmed as a reliable, robust screening test. In a patient with PWS, methylation analysis does not provide the mechanism, for which other different genetic tests are required. Appropriate tests are available in each Australian state.

References

1 Chu CE, Cooke A, Shephenson JBP et al. Diagnosis in Prader–Willi syndrome. Arch. Dis. Child. 1994; 71: 441–2.
10.1136/adc.71.5.441
CAS PubMed Web of Science® Google Scholar
2 Young ID. Diagnosing Prader–Willi syndrome. Lancet 1995; 345: 1590.
10.1016/S0140-6736(95)90112-4
CAS PubMed Web of Science® Google Scholar
3 Smith A, Deng Z-M, Prasad M, Robson L, Woodage T, Trent R. Comparison of high resolution cytogenetics, fluorescence in situ hybridisation (FISH) and DNA studies to validate the diagnosis of Prader–Willi and Angelman syndromes. Arch. Dis. Child. 1995; 72: 397–402.
10.1136/adc.72.5.397
CAS PubMed Web of Science® Google Scholar
4 Kubota T, Sutcliffe JS, Aradhya S et al. Validation studies of SNRPN methylation as a diagnostic test for Prader–Willi syndrome. Am. J. Med. Genet. 1996; 66: 77–80.
10.1002/(SICI)1096-8628(19961202)66:1<77::AID-AJMG18>3.0.CO;2-N
CAS PubMed Web of Science® Google Scholar
5 American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee. Diagnostic Testing for Prader–Willi and Angelman syndromes: Report of the ASHG/ACMG test and technology transfer committee. Am. J. Hum. Genet. 1996; 58: 1085–8.
Google Scholar
6 Erdel M, Schuffenhauer S, Buchholz B et al. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader–Willi or Angelman syndromes using YAC clone 273A2 (D15S:10). Hum. Genet. 1996; 97: 784–93.
10.1007/BF02346190
CAS PubMed Web of Science® Google Scholar
7 Monaghan KG, Van Dyke DL, Feldman G, Wiktor A, Weiss L. Diagnostic testing: A cost analysis for Prader–Willi and Angelman syndromes. Am. J. Hum. Genet. 1997; 60: 244–7.
CAS PubMed Web of Science® Google Scholar
8 Smith A, Robson L, Buchholz T. Diagnostic testing for Prader–Willi (PWS) and Angelman (AS) syndromes: Response. Am. J. Hum. Genet. 1997; 61: 241–4.
10.1016/S0002-9297(07)64300-6
CAS PubMed Web of Science® Google Scholar
9 Cassidy SB. Prader–Willi syndrome. J. Med. Genet. 1997; 34: 917–23.
10.1136/jmg.34.11.917
CAS PubMed Web of Science® Google Scholar
10 Holm VA, Cassidy SB, Butler MG et al. Prader–Willi syndrome: Consensus diagnostic criteria. Pediatrics 1993; 91: 398–402.
CAS PubMed Web of Science® Google Scholar
11 Dittrich B, Robinson WP, Knoblauch H et al. Molecular diagnosis of the Prader–Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11–13. Hum. Genet. 1992; 90: 313–5.
10.1007/BF00220089
CAS PubMed Web of Science® Google Scholar
12 Nicholls RD, Saitoh S, Horsthemke B. Imprinting in Prader–Willi and Angelman syndromes. TIG 1998; 14: 194–200.
10.1016/S0168-9525(98)01432-2
CAS PubMed Web of Science® Google Scholar
13 Gillesen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B. DNA methylation based testing of 450 patients suspected of having Prader–Willi syndrome. J. Med. Genet. 1995; 32: 88–92.
10.1136/jmg.32.2.88
PubMed Web of Science® Google Scholar
14 Buchholz T, Jackson J, Robson L, Smith A. Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader–Willi or Angelman syndromes. Hum. Genet. 1998; 103: 535–9.
10.1007/s004390050866
CAS PubMed Web of Science® Google Scholar
15 Wevrick R & Francke U. Diagnostic test for the Prader–Willi syndrome by SNRPN expression in blood. Lancet 1996; 348: 1068–9.
10.1016/S0140-6736(96)04342-5
CAS PubMed Web of Science® Google Scholar
16 Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG. Breakage in the SNRPN locus in a balanced 46,XY,t (15; 19) Prader–Willi syndrome patient. Hum. Mol. Gen. 1996; 5: 517–24.
10.1093/hmg/5.4.517
CAS PubMed Web of Science® Google Scholar

Citing Literature

Volume35, Issue4

August 1999

Pages 335-337

The diagnosis of Prader–Willi syndrome

Abstract

References

Citing Literature

References

Information

About Wiley Online Library

Help & Support

Opportunities

Connect with Wiley

The diagnosis of Prader–Willi syndrome

Abstract

References

Citing Literature

References

Related

Information