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. 1994 Nov;71(5):441-2.
doi: 10.1136/adc.71.5.441.

Diagnosis in Prader-Willi syndrome

C E Chu  1 , A Cooke, J B Stephenson, J L Tolmie, B Clarke, W L Parry-Jones, J M Connor, M D Donaldson
Affiliations

Diagnosis in Prader-Willi syndrome

C E Chu et al. Arch Dis Child. 1994 Nov.

Abstract

Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular genetic studies.

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References

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