Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.,Annals of Laboratory Medicine

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Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
Annals of Laboratory Medicine ( IF 4.9 ) Pub Date : 2021-8-11 , DOI: 10.3343/alm.2022.42.1.79
Boram Kim ₁ , Yongsook Park ₁ , Sung Im Cho ₁ , Man Jin Kim ₁ , Jong-Hee Chae ₂ , Ji Yeon Kim ₃ , Moon-Woo Seong _{1,

3} , Sung Sup Park _{1,

3}

Affiliation

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genomic imprinting disorders that are mainly caused by a deletion on 15q11-q13, the uniparental disomy of chromosome 15, or an imprinting defect. We evaluated the utility of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as a diagnostic tool and for demonstrating the relationship between molecular mechanisms and clinical presentation.

中文翻译：

甲基化特异性多重连接依赖性探针扩增在诊断 Prader-Willi 综合征和 Angelman 综合征中的临床应用。

Prader-Willi 综合征 (PWS) 和 Angelman 综合征 (AS) 是基因组印记疾病，主要由 15q11-q13 缺失、15 号染色体的单亲二体性或印记缺陷引起。我们评估了甲基化特异性多重连接依赖性探针扩增 (MS-MLPA) 作为诊断工具和证明分子机制与临床表现之间关系的效用。

更新日期：2021-08-11

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