Dai Xiao-Ying, Zhou Lu, Liu Yang, Xie Jian-Sheng
Clin Lab. 2017 Sep 1;63(9):1501-1506. doi: 10.7754/Clin.Lab.2017.170220.
Chromosome 15q24 microdeletion syndrome is a rare disease. To date, only 40 cases have been reported. Here, we also confirmed a 15q24 microdeletion syndrome in a chorionic villus of miscarriage.
The microdeletion was screened by multiplex ligation-dependent probe amplification (MLPA) and then identified by chromosomal microarray analysis (CMA).
A 15q24 microdeletion syndrome was screened by MLPA in the chorionic villus of miscarriage in a Chinese family and was confirmed to be a de novo 3.143 Mb 15q24.1q24.2 deletion (chr15:72930195-76073450) by chromosomal microarray analysis (CMA).
We first reported the 15q24 microdeletion syndrome screened by MLPA in Chinese population, and we also considered that the technique of MLPA with a suitable kit and probe could screen such a rare microdeletion quickly, economically, and efficiently.
15号染色体q24微缺失综合征是一种罕见疾病。迄今为止，仅报道了40例病例。在此，我们还在一例流产的绒毛膜绒毛中确诊了15q24微缺失综合征。
通过多重连接依赖探针扩增（MLPA）筛查微缺失，然后通过染色体微阵列分析（CMA）进行鉴定。
在中国一个家庭的流产绒毛膜绒毛中，通过MLPA筛查出15q24微缺失综合征，并经染色体微阵列分析（CMA）确认为新发的3.143 Mb 15q24.1q24.2缺失（chr15:72930195 - 76073450）。
我们首次报道了在中国人群中通过MLPA筛查出的15q24微缺失综合征，并且我们还认为使用合适的试剂盒和探针的MLPA技术能够快速、经济且高效地筛查此类罕见的微缺失。
