The diagnosis of Prader-Willi syndrome

Journal of Paediatrics and Child Health

Volumn 35, Issue 4, 1999, Pages 335-337

  Smith, A ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

Chromosome 15; Fluorescence in situ hybridization; Methylation analysis

Indexed keywords

DNA;

ARTICLE; AUSTRALIA; CHROMOSOME 15Q; CYTOGENETICS; DIAGNOSTIC TEST; DNA METHYLATION; DNA POLYMORPHISM; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SCREENING TEST;

ADOLESCENT; CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; FEMALE; GENETIC TECHNIQUES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; POLYMORPHISM, GENETIC; PRADER-WILLI SYNDROME; RNA;

EID: 0032874349     PISSN: 10344810     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1754.1999.00396.x     Document Type: Article

References (16)

1. 1 Chu CE, Cooke A, Shephenson JBP et al. Diagnosis in Prader-Willi syndrome. Anh. Dis. Child. 1994; 71: 441-2.
2. 2 Young ID. Diagnosing Prader-Willi syndrome. Lancet 1995; 345: 1590.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 9 Cassidy SB. Prader-Willi syndrome. J. Med Genet. 1997; 34: 917-23.
10. 10 Holm VA, Cassidy SB, Butler MG et al. Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 1993; 91: 398-402.
11. 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.
12. 12 Nicholls RD, Saitoh S, Horsthemke B. Imprinting in Prader-Willi and Angelman syndromes. TIG 1998; 14: 194-200.
13. 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.
14. 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.
15. 15 Wevrick H, Francke U. Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet 1996; 348: 1068-9.
16. 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.