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[Prenatal diagnosis of a fetus with Phelan-McDermid syndrome]
Yuqin Luo1, Yeqing Qian, Liya Wang
1Department of Reproductive Genetics, Women' s Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China. dongmy@zju.edu.cn.
Objective:
To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques.
Methods:
Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus.
Results:
SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin.
Conclusion:
Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.
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