产前诊断Phelan-McDermid综合征细胞分子遗传学研究

Prenatal diagnosis of Phelan-McDermid syndrome cytomolecular genetics research

目的报道一例罕见的Phelan-McDermid综合征胎儿的临床病例,探讨细胞分子遗传学检查在Phelan-McDermid综合征诊断中的应用价值。方法对孕妇行羊膜腔穿刺获取胎儿细胞进行培养并行染色体核型分析来确定胎儿的染色体核型。结果胎儿的羊水染色体核型分析结果为46,XX,del(22)(q13),单核苷酸多态性阵微列芯片(singlenucleotidepolymorphism array,SNP array)检查结果为:缺失arr(hg19)22q13.33(50,974,299,-51,197,766)×1(223kb),可诊断Phelan-McDermid综合征。结论 Phelan-McDermid综合征需通过相关遗传学检查确诊。尤其在产前诊断中,综合运用多种遗传学检查技术至关重要,可为临床诊疗和妊娠决策提供重要依据。

Objective A rare clinical case of a fetus with Phelan-McDermid syndrome is reported, and the application value of cytomolecular genetics examination in the diagnosis of Phelan-McDermid syndrome is discussed. Methods Through amniocentesis of pregnant women to obtain fetal cells for culture and karyotype analysis to determine the fetal chromosome karyotype. Results Fetal amniotic fluid karyotype analysis results were 46,XX,del(22)(q13), single nucleotide polymorphism array(SNP array) results: deletion of arr(hg19)22 q13.33(50,974,299,-51,197,766)×1(223 kb), which can be used to diagnose Phelan-McDermid syndrome. Conclusion The diagnosis of Phelan-McDermid syndrome requires genetic examination. Especially in prenatal diagnosis, it is very important to use a variety of genetic examination techniques, which can provide important basis for clinical diagnosis and treatment and pregnancy decision-making.