Chen Chen, Peng Ying, Xia Yan, Li Haoxian, Zhu Huimin, Pan Qian, Yin Fei, Wu Lingqian
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):708-12. doi: 10.3760/cma.j.issn.1003-9406.2014.06.006.
To investigate the genotype-phenotype correlation in patients with Angelman syndrome/Prader-Willi syndrome (AS/PWS) and assess the application value of high-resolution single nucleotide polymorphism microarrays (SNP array) for such diseases.
Twelve AS/PWS patients were diagnosed through SNP array, fluorescence in situ hybridization (FISH) and karyotype analysis. Clinical characteristics were analyzed.
Deletions ranging from 4.8 Mb to 7.0 Mb on chromosome 15q11.2-13 were detected in 11 patients. Uniparental disomy (UPD) was detected in only 1 patient. Patients with deletions could be divided into 2 groups, including 7 cases with class I and 4 with class II. The two groups however had no significant phenotypic difference. The UPD patient had relatively better development and language ability. Deletions of 6 patients were confirmed by FISH to be of de novo in origin. The risk to their sibs was determined to be less than 1%.
The phenotypic differences between AS/PWS patients with class I and class II deletion need to be further studied. SNP array is useful in detecting and distinguishing of patients with deletion or UPD. This method may be applied for studying the genotype-phenotype association and the mechanism underlying AS/PWS.
探讨天使综合征/普拉德-威利综合征（AS/PWS）患者的基因型与表型的相关性，并评估高分辨率单核苷酸多态性微阵列（SNP阵列）对此类疾病的应用价值。
通过SNP阵列、荧光原位杂交（FISH）和核型分析对12例AS/PWS患者进行诊断，并分析其临床特征。
11例患者检测到15号染色体q11.2-13区域4.8 Mb至7.0 Mb的缺失，仅1例患者检测到单亲二体（UPD）。缺失患者可分为两组，其中I类7例，II类4例，两组表型差异无统计学意义。UPD患者发育及语言能力相对较好。6例患者的缺失经FISH证实为新发，其同胞患病风险小于1%。
I类和II类缺失的AS/PWS患者的表型差异有待进一步研究。SNP阵列有助于检测和鉴别缺失或UPD患者，该方法可用于研究AS/PWS的基因型-表型关联及发病机制。
