简介和机制：Angelman综合症（AS）的表现为：重度精神发育迟缓( 智商20～34)（MR）、没有语言能力、四肢行动失调、典型的行为特征是兴奋过度.患者往往表现为头较小和惊厥.普拉德-威利综合症（PWS）在新生儿期有严重的低肌张力和喂养问题,随后在婴儿期却有不能控制的食欲从而导致肥胖.许多病人有低度的MR、行动失调和性腺发育不全.两种症状都是作用于15q11-q13区域由基因组印迹调节的多种遗传机制所引起的,即该区域的基因只有一个拷贝是有功能的,这取决于它来自父母的哪一方.如果来只表达来源于母亲15号染色体上的基因功能缺乏就会导致PWS,如果来母亲的UBE3A基因遗传异常则会导致AS.结论：在预后和遗传咨询上确立两种综合症的临床诊断和遗传机制非常重要,这有助于草拟两种综合症的诊断程序.

Rev Neurol. 2006 Jan 7;42 Suppl 1:S61-7 
[From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes]
[Article in Spanish]
Camprubí-Sánchez C, Gabau-Vila E, Artigas-Pallarés J, Coll-Sandiumenge MD, Guitart-Feliubadaló M.
Facultat de Ciències, Universitat Autònoma de Barcelona, E-08193 Bellaterra (Barcelona). cristina.camprubi@uab.es
INTRODUCTION AND DEVELOPMENT: Angelman syndrome (AS) is characterised by severe mental retardation (MR), the absence of language, ataxia and/or tremors in the extremities and a characteristic behavioural phenotype with a happy behaviour and hyperactivity. Patients often show signs of microcephaly and convulsions. Prader-Willi syndrome (PWS) is characterised by acute hypotonia and feeding problems in the neonatal period, and triggers an uncontrollable appetite in the infant that leads to obesity. Most patients have some degree of MR, behavioural disorders and hypogonadism. Both pathologies are caused by a number of genetic mechanisms that affect the 15q11-q13 region regulated by genomic imprinting, which means that only one of the two copies of the genes in this region will be functional, depending on which parent they come from. The physical or functional absence of genes that are only expressed by the mother\'s chromosome 15 causes PWS and gentic anomalies which affects the UBE3A gen mother\'s copy causes AS. CONCLUSIONS: It is important to confirm the clinical diagnosis and to establish the genetic mechanism responsible for the two syndromes, both for their consequences as regards the prognosis and for genetic counselling; it is therefore important to draw up a diagnostic algorithm.

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