Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- M-PCR(methylation-specific PCR)
研究概览
简要总结
In a retrospective study, data were assessed from cases regarding PWS/AS that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2014.
详细描述
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct syndromes of developmental impairment that result from loss of the expression of imprinted genes on the q11-q13 region of chromosome 15 (15q11-q13). Approximately 70%--75% of individuals affected with PWS and AS have an interstitial deletion of 15q11-q13. Regarding the remaining individuals with PWS, maternal uniparental disomy is the cause in 20% of cases, imprinting errors in 3% of cases, and chromosomal translocation in approximately 1% of cases. Regarding the remaining cases of AS, paternal uniparental disomy accounts for 2% of cases and mutations in the UBE3A gene for 20% of cases.The PWS/AS critical region was examined by fluorescence in situ hybridization (FISH), methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation dependent probe amplification(MS-MLPA). In a retrospective study at the National Chen-Kung University Hospital,Tainan, Taiwan, data were reviewed from cases that were referred for molecular diagnosis between January 1, 2001, and December 31, 2014.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 45 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individual with clinical features related to Prader-Willi syndrome or Angelman syndrome;
- •Fetus with suspicious deletion or duplication of chromosome 15q11.2-q13 visible by the microscope;
- •Fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13
- •Fetus with mosaic trisomy 15
排除标准
- 未提供
结局指标
主要结局
M-PCR(methylation-specific PCR)
时间窗: up to 4 weeks after diagnosis
Abnormal pattern of M-PCR can identify PWS or AS
FISH(fluorescent in-situ hybridization)
时间窗: up to 4 weeks after diagnosis
A "FISH" test will identify PWS/AS due to a deletion, but it will not identify those by UPD or an imprinting error.
STR(short tandem repeat) for UPD (uniparental disomy)
时间窗: up to 4 weeks after diagnosis
A '"STR" test can identify PWS/AS duo to paternal or maternal UPD.
MS-MLPA (methylation-specific multiplex-ligation-dependent probe amplification)
时间窗: up to 4 weeks after diagnosis
Use of the quantitative MS-MLPA method provides detailed information about deletions, rare duplications, and possibly UPD
次要结局
未报告次要终点