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
收藏
页码：418 / 424
页数：7
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