PMID- 28397216
OWN - NLM
STAT- MEDLINE
DCOM- 20170914
LR  - 20170914
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 2
DP  - 2017 Apr 10
TI  - [Prenatal diagnosis of 22q11 microdeletion syndrome].
PG  - 192-195
LID - 10.3760/cma.j.issn.1003-9406.2017.02.008 [doi]
AB  - OBJECTIVE: To establish a method for the prenatal diagnosis of 22q11 
      microdeletion syndrome. METHODS: BACs-on-Beads (BoBs) and fluorescence in situ 
      hybridization (FISH) were performed on a fetus for whom amniotic chromosomal 
      culturing has failed and a pair of twin fetuses suspected for 22q11 deletion 
      syndrome. RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal 
      BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 
      site and two green signals on the 22q13.3 ARSA site. CONCLUSION: The combination 
      of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 
      22q11 microdeletion.
FAU - Cai, Meiying
AU  - Cai M
AD  - Fujian Hospital for Material and Child Health Care, Fuzhou, Fujian 350001, China. 
      ipxiu304@126.com.
FAU - Huang, Hailong
AU  - Huang H
FAU - Lin, Na
AU  - Lin N
FAU - Guo, Nan
AU  - Guo N
FAU - Wu, Xiaoqing
AU  - Wu X
FAU - Su, Linjuan
AU  - Su L
FAU - Xu, Liangpu
AU  - Xu L
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
SB  - IM
MH  - Adult
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DiGeorge Syndrome/diagnosis/embryology/*genetics
MH  - Female
MH  - Fetal Diseases/diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - Prenatal Diagnosis
EDAT- 2017/04/12 06:00
MHDA- 2017/09/15 06:00
CRDT- 2017/04/12 06:00
PHST- 2017/04/12 06:00 [entrez]
PHST- 2017/04/12 06:00 [pubmed]
PHST- 2017/09/15 06:00 [medline]
AID - 940634039 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.02.008 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):192-195. doi: 
      10.3760/cma.j.issn.1003-9406.2017.02.008.