作者
Eve Õiglane‐Shlik, Tiina Talvik, Riina Žordania, Haide Poder, Tiina Kahre, Elve Raukas, Tiiu Ilus, Gunnar Tasa, Oliver Bartsch, Marja‐Leena Väisänen, Katrin Ounap
发表日期
2006/9/15
期刊
American Journal of Medical Genetics Part A
卷号
140
期号
18
页码范围
1936-1943
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
In 2000–2004, we performed a focused search for individuals with Angelman syndrome (AS) and Prader–Willi syndrome (PWS) aiming to establish the prevalence data for the individuals born between 1984 and 2004 in Estonia. All persons with probable AS or PWS (n = 184) were studied using the DNA methylation test. Individuals with abnormal methylation were all further tested by chromosomal and FISH analysis, and if necessary for uniparental disomy and UBE3A gene mutation. Nineteen cases with abnormal methylation test result were identified. Seven of them had AS, including six (85.7%) due to 15q11‐13 deletion and one paternal UPD15. Twelve subjects had PWS: 4 (33%) 15q11‐13 deletions, 6 (50%) maternal UPD15, 1 unbalanced chromosome 14;15 translocation resulting in a chromosome 15pter‐q13 deletion, and 1 Robertsonian 15q;15q translocation. The minimum livebirth prevalence in 1984 …
引用总数
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