DIAGNOSIS IN PRADER-WILLI-SYNDROME

被引：20
|
作者：
CHU, CE
COOKE, A
STEPHENSON, JBP
TOLMIE, JL
CLARKE, B
PARRYJONES, WL
CONNOR, JM
DONALDSON, MDC
机构：
[1] ROYAL HOSP SICK CHILDREN,DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,LANARK,SCOTLAND
[2] ROYAL HOSP SICK CHILDREN,FRASER ALLANDER UNIT,GLASGOW,LANARK,SCOTLAND
[3] ROYAL HOSP SICK CHILDREN,DEPT DIETET,GLASGOW,LANARK,SCOTLAND
[4] ROYAL HOSP SICK CHILDREN,DEPT ADOLESCENT PSYCHIAT,GLASGOW,LANARK,SCOTLAND
[5] ROYAL HOSP SICK CHILDREN,DEPT CHILD HLTH,GLASGOW,LANARK,SCOTLAND
来源：
ARCHIVES OF DISEASE IN CHILDHOOD | 1994年 / 71卷 / 05期
关键词：
D O I：
10.1136/adc.71.5.441
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
引用
收藏
页码：441 / 442
页数：2
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