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Abstract

CASE REPORTA Novel Case of 15q24 Microdeletion Syndrome Detected by MLPA in a Chinese Family by Xiao-Ying Dai, Lu Zhou, Yang Liu, Jian-Sheng Xie

Background: 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.
Methods: The microdeletion was screened by multiplex ligation-dependent probe amplification (MLPA) and then identified by chromosomal microarray analysis (CMA).
Results: 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).
Conclusions: 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.

DOI: 10.7754/Clin.Lab.2017.170220