Angelman syndrome 2005: Updated consensus for diagnostic criteria

被引：405

作者：

Williams, CA

Beaudet, AL

Clayton-Smith, J

Knoll, JH

Kyllerman, M

Laan, LA

Magenis, RE

Moncla, A

Schinzel, AA

Summers, JA

Wagstaff, J

机构：

[1] Univ Florida, Dept Pediat, Div Genet, RC Philips Unit, Gainesville, FL 32610 USA

[2] Angelman Syndrome Fdn, Sci Advisory Committee, Aurora, IL USA

[3] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[4] St Marys Hosp, Acad Dept Med Genet, Manchester M13 0JH, Lancs, England

[5] Univ Missouri, Sch Med, Childrens Mercy Hosp & Clin, Sect Med Genet & Mol Med, Kansas City, MO 64108 USA

[6] Univ Gothenburg, Queen Silvia Childrens Hosp, Dept Neuropediat, Gothenburg, Sweden

[7] Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands

[8] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[9] Hop Enfants La Timone, Dept Med Genet, F-13385 Marseille, France

[10] Univ Zurich, Inst Med Genet, Zurich, Switzerland

[11] McMaster Childrens Hosp, Hamilton Hlth Sci, Hamilton, ON, Canada

[12] Carolinas Med Ctr, Dept Pediat, Clin Genet Program, Charlotte, NC 28203 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 05期

关键词：

angelman syndrome; imprinting center; 15q11.2-q13; paternal UPD; diagnosis; criteria behavioral phenotype; EEG;

D O I：

10.1002/ajmg.a.31074

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In 1995, a consensus Statement was published for the purpose Of Summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and accurate diagnosis. Considering the scientific advances made in the last 10 Nears, it is necessary now to review the validity of the original consensus criteria. As in the original consensus project, the methodology used for this review was to convene a group of scientists and clinicians, with experience in AS, to develop a concise consensus statement, supported by scientific publications where appropriate. It is hoped that this revised consensus document will facilitate further clinical Study of individuals with proven AS, and assist in the evaluation of those who appear to have clinical features of AS but have normal laboratory diagnostic testing. (c) 2006 Wiley-Liss. Inc.

引用

页码：413 / 418

页数：6

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