Genetic basis of Prader-Willi and Angelman syndromes: Implications for diagnostic testing.

被引：5

作者：

Dupont, JM

Cuisset, L

机构：

[1] Hop Cochin, Lab Histol Embryol Cytogenet, F-75014 Paris, France

[2] Hop Cochin, Lab Biochim & Genet Mol, F-75014 Paris, France

来源：

ARCHIVES DE PEDIATRIE | 1998年 / 5卷 / 04期

关键词：

Prader-Willi syndrome; Angelman syndrome; diagnosis; laboratory; genetics counseling;

D O I：

10.1016/S0929-693X(98)80031-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Prader-Willi and Angelman syndromes are two genetic diseases whose clinical diagnosis is often impaired by a wide variability in some clinical findings. New insights in the genetic basis of these disorders allow the proposition of a biological approach to detect almost all Prader-Willi syndrome patients and over 80% of Angelman syndrome patients. Moreover, the results of these tests are indispensable for the evaluation of the recurrence risk. (C) 1998, Elsevier, Paris.

引用

页码：418 / 424

页数：7

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