PMID- 31400142
OWN - NLM
STAT- MEDLINE
DCOM- 20190924
LR  - 20190925
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 8
DP  - 2019 Aug 10
TI  - [Prenatal diagnosis of a fetus with Phelan-McDermid syndrome].
PG  - 841-843
LID - 10.3760/cma.j.issn.1003-9406.2019.08.022 [doi]
AB  - 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.
FAU - Luo, Yuqin
AU  - Luo Y
AD  - Department of Reproductive Genetics, Women' s Hospital, Zhejiang University 
      School of Medicine, Hangzhou, Zhejiang 310006, China. dongmy@zju.edu.cn.
FAU - Qian, Yeqing
AU  - Qian Y
FAU - Wang, Liya
AU  - Wang L
FAU - Yang, Yanmei
AU  - Yang Y
FAU - Sun, Yixi
AU  - Sun Y
FAU - Jin, Fan
AU  - Jin F
FAU - Dong, Minyue
AU  - Dong M
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - Telomeric 22q13 Monosomy Syndrome
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*diagnosis
MH  - Chromosomes, Human, Pair 22
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2019/08/11 06:00
MHDA- 2019/09/26 06:00
CRDT- 2019/08/11 06:00
PHST- 2019/08/11 06:00 [entrez]
PHST- 2019/08/11 06:00 [pubmed]
PHST- 2019/09/26 06:00 [medline]
AID - 940636178 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.08.022 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):841-843. doi: 
      10.3760/cma.j.issn.1003-9406.2019.08.022.