A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.

Author:

Chotai K A,Payne S J

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion;Knoll, J.H.M.; Nicholls, R.D.; Magenis, R.E.; JM, Jr, Graham; Lalande, M.; Latt, S.A.;Am J Med Genet,1989

2. and clinical investigations of Prader-Willi syndrome patients;Robinson, W.P.; Bottani, A.; Yagang, X.;Am J Hum Genet,1991

3. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental;Cassidy, S.B.; Forsythe, M.; Heeger, S.;disomy 15. Am Med Genet,1997

4. Uniparental for preferential PCR amplification of smaller (paternal) alleles producing a false diagnosis of Angelman syndrome. The most important potential problem associated with our method paternal disomy in Angelman's syndrome;Malcolm, S.; Clayton-Smith, J.; Nichols, M.;Lancet,1991

5. Maternal origin of deletion 15ql 1-13 in 25/25 cases of Angelman syndrome. Hum Genet 1992; 88: 376-8. is that of false negatives resulting from incomplete restriction digestion. In particular, some laboratories are known to observe partial restriction digestion with NotI in Southern blot;Clayton-Smith, J.; Webb, T.; Pembrey, M.E.; Nichols, M.; Malcolm, S.

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