Zhao Lijuan, Wan Bo
Fetal Medicine Center, the Third Affiliated Hospital of Southern Medical University, Guangzhou, Guangdong 510630, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):154-156. doi: 10.3760/cma.j.issn.1003-9406.2019.02.015.
To explore the value of single nucleotide polymorphism (SNP) array for molecular diagnosis.
A Chinese girl suspected for Phelan-McDermid syndrome was subjected to routine G-banding chromosomal analysis, SNP array, and fluorescence in situ hybridization (FISH) assaying.
G-banding karyotype analysis has found no abnormality in the girl and her parents. SNP array detected a heterozygous 2.1 Mb deletion at 22q13.33 in the girl, which was confirmed by FISH. The same deletion was not found in either parent. FISH analysis found that her father has carried a balance t(4;22) translocation.
SNP-array has the advantage of high resolution and accuracy, which is valuable for the diagnosis of microdeletion or microduplication syndromes.
探讨单核苷酸多态性（SNP）芯片在分子诊断中的价值。
对一名疑似患有费兰 - 麦克德米德综合征的中国女孩进行常规G显带染色体分析、SNP芯片检测及荧光原位杂交（FISH）检测。
G显带核型分析显示该女孩及其父母染色体无异常。SNP芯片检测发现该女孩22q13.33区域存在杂合性2.1 Mb缺失，FISH检测进一步证实了这一结果。其父母均未检测到相同缺失。FISH分析发现女孩父亲携带平衡易位t(4;22)。
SNP芯片具有分辨率高和准确性高的优点，对微缺失或微重复综合征的诊断具有重要价值。
