Prenatal diagnosis of a fetus with Phelan-McDermid syndrome.
10.3760/cma.j.issn.1003-9406.2019.08.022
- Author:
Yuqin LUO
1
;
Yeqing QIAN
;
Liya WANG
;
Yanmei YANG
;
Yixi SUN
;
Fan JIN
;
Minyue DONG
Author Information
1. Department of Reproductive Genetics, Women' s Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China. dongmy@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Chromosome Deletion;
Chromosome Disorders;
diagnosis;
Chromosomes, Human, Pair 22;
Female;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(8):841-843
- CountryChina
- Language:Chinese
-
Abstract:
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.
