PMID- 28981939
OWN - NLM
STAT- MEDLINE
DCOM- 20180313
LR  - 20180313
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 5
DP  - 2017 Oct 10
TI  - [Genetic diagnosis and follow up of a fetus with Emanuel syndrome].
PG  - 709-713
LID - 10.3760/cma.j.issn.1003-9406.2017.05.020 [doi]
AB  - OBJECTIVE: To carry out genetic analysis for a fetus with Dandy-Walker 
      malformation and provide prenatal diagnosis for its parents during the subsequent 
      pregnancy. METHODS: Routine G-banding was carried out to analyze the karyotype of 
      the fetus and its parents, and next-generation sequencing (NGS) and fluorescence 
      in situ hybridization (FISH) were used to verify the result. RESULTS: The father 
      showed a normal karyotype, while the mother was found to carry a balanced t(11; 
      22) (q23; q11) translocation. NGS and FISH analysis verified that the 
      supernumerary marker chromosome carried by the fetus was der(22) t(11; 22) 
      (q23;q11). The fetus was diagnosed with Emanuel syndrome. During the next 
      pregnancy, the fetus was found to carry the same balanced translocation as its 
      mother. After genetic counseling, the couple decided to continue with the 
      pregnancy, and eventually delivered a healthy baby. CONCLUSION: A fetal case of 
      Emanuel syndrome has been identified. The derivative der(22) t(11; 22)(q23; q11) 
      chromosome probably underlies the Dandy-Walker malformation in the fetus. 
      Combined cytogenetic and molecular analyses can attain a more precise diagnosis 
      for fetal abnormalities detected by ultrasonography.
FAU - Zhao, Yanhui
AU  - Zhao Y
AD  - Department of Genetics, Shenyang Women and Children's Hospital, Shenyang, 
      Liaoning 110001, China. pangh2006@aliyun.com.
FAU - Pang, Hong
AU  - Pang H
FAU - Gao, Ming
AU  - Gao M
FAU - Feng, Xiaojing
AU  - Feng X
FAU - Guan, Yunping
AU  - Guan Y
FAU - Zhao, Hua
AU  - Zhao H
FAU - Tong, Dan
AU  - Tong D
FAU - Hua, Jun
AU  - Hua J
FAU - Cao, Xia
AU  - Cao X
FAU - He, Shaosong
AU  - He S
FAU - Li-Ling, Jesse
AU  - Li-Ling J
LA  - chi
PT  - Case Reports
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  - Emanuel syndrome
SB  - IM
MH  - Adult
MH  - Chromosome Disorders/diagnosis/*genetics
MH  - Chromosomes, Human, Pair 11
MH  - Chromosomes, Human, Pair 22
MH  - Cleft Palate/diagnosis/*genetics
MH  - Female
MH  - Follow-Up Studies
MH  - Heart Defects, Congenital/diagnosis/*genetics
MH  - Humans
MH  - Intellectual Disability/diagnosis/*genetics
MH  - Muscle Hypotonia/diagnosis/*genetics
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Translocation, Genetic
EDAT- 2017/10/06 06:00
MHDA- 2018/03/14 06:00
CRDT- 2017/10/06 06:00
PHST- 2017/10/06 06:00 [entrez]
PHST- 2017/10/06 06:00 [pubmed]
PHST- 2018/03/14 06:00 [medline]
AID - 940634145 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.05.020 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):709-713. doi: 
      10.3760/cma.j.issn.1003-9406.2017.05.020.