PMID- 31922586
OWN - NLM
STAT- MEDLINE
DCOM- 20200113
LR  - 20200113
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 1
DP  - 2020 Jan 10
TI  - [Genetic diagnosis of a fetus with Dandy-Walker syndrome].
PG  - 8-11
LID - 10.3760/cma.j.issn.1003-9406.2020.01.003 [doi]
AB  - OBJECTIVE: To explore the genetic basis for a fetus with Dandy-Walker 
      malformation. METHODS: G-banding chromosomal karotyping, single nucleotide 
      polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) 
      were carried out for the fetus. Chromosomal karyotyping and FISH assay were also 
      carried out for both parents. RESULTS: SNP array has detected a 4266 kb 
      microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH 
      analysis of the parents demonstrated that the father has carried a cryptic 
      t(6;14) (p25.1;p13) translocation, while the fetus has a der(6)t(6;14)(p25.1;p13) 
      derived the paternal translocation. CONCLUSION: The der(6)t(6;14)(p25.1;p13) 
      probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 
      microdeletion is due to unbalanced gametes produced by the father's cryptic 
      balanced translocation.
FAU - Luo, Yuqin
AU  - Luo Y
AD  - Department of Reproductive Genetics, Women's Hospital Affiliated to Zhejiang 
      University School of Medicine, Hangzhou, Zhejiang 310006, China. 
      dongmy@zju.edu.cn.
FAU - Sun, Yixi
AU  - Sun Y
FAU - Qian, Yeqing
AU  - Qian Y
FAU - Shen, Min
AU  - Shen M
FAU - Wang, Liya
AU  - Wang L
FAU - Jin, Fan
AU  - Jin F
FAU - Dong, Minyue
AU  - Dong M
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
SB  - IM
MH  - *Dandy-Walker Syndrome/diagnosis/genetics
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - *Translocation, Genetic
EDAT- 2020/01/11 06:00
MHDA- 2020/01/14 06:00
CRDT- 2020/01/11 06:00
PHST- 2020/01/11 06:00 [entrez]
PHST- 2020/01/11 06:00 [pubmed]
PHST- 2020/01/14 06:00 [medline]
AID - 940637003 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2020.01.003 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):8-11. doi: 
      10.3760/cma.j.issn.1003-9406.2020.01.003.