PMID- 28186603
OWN - NLM
STAT- MEDLINE
DCOM- 20170629
LR  - 20170629
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 1
DP  - 2017 Feb 10
TI  - [Prenatal genetic analysis of two fetuses with Miller-Dieker syndrome].
PG  - 89-92
LID - 10.3760/cma.j.issn.1003-9406.2017.01.021 [doi]
AB  - OBJECTIVE: To perform molecular cytogenetic study on two fetuses with abnormal 
      ultrasound findings and analyze their genotype-phenotype correlation. METHODS: 
      G-banded karyotyping, single nucleotide polymorphism array (SNP array) and 
      fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells 
      from both fetuses and peripheral blood samples from their parents. Results of SNP 
      array were analyzed with bioinformatics software. RESULTS: G-banded karyotyping 
      failed to detect any abnormalities in both fetuses and their parents. SNP array 
      detected a 2.484 Mb terminal deletion at 17p13.3 [arr[hg19] 17p13.3 (83 035-2 567 
      405)x1] in fetus 1 and a 3.295 Mb terminal deletion at 17p13.3p13.2 [arr[hg19] 
      17p13.3p13.2 (83 035- 3 377 560)x1] in fetus 2. Both deletions have overlapped 
      with the critical region of Miller-Dieker syndrome (MDS) and involved candidate 
      genes such as PAFAH1B1, YWHAE and CRK. In addition, SNP array and FISH analyses 
      on the parental peripheral blood samples demonstrated that both 17p13.3 and 
      17p13.3p13.2 deletions were of de novo origin. Metaphase FISH performed on 
      amniotic fluid cells confirmed the presence of 17p13.3 and 17p13.3p13.2 deletions 
      detected by the SNP array, while metaphase FISH performed on the parents excluded 
      any potential chromosome rearrangements. CONCLUSION: Abnormal ultrasound features 
      for fetuses with MDS mainly include central nervous system anomalies. SNP array 
      can efficiently detect 17p13.3 microdeletions underlying MDS, and accurately map 
      the breakpoints and involved genes, which may facilitate understanding of the 
      genotype and phenotype correlations for MDS.
FAU - Lin, Shaobin
AU  - Lin S
AD  - Fetal Medicine Center, The First Affiliated Hospital of Sun Yat-sen University, 
      Guangzhou, Guangdong 510080,China. zhouyifm@163.com.
FAU - Luo, Yanmin
AU  - Luo Y
FAU - Wu, Jianzhu
AU  - Wu J
FAU - Chen, Baojiang
AU  - Chen B
FAU - Ji, Yuanjun
AU  - Ji Y
FAU - Zhou, Yi
AU  - Zhou Y
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  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Classical Lissencephalies and Subcortical Band Heterotopias/diagnostic 
      imaging/*genetics
MH  - Female
MH  - Fetal Diseases/diagnostic imaging/*genetics
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease/genetics
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - Ultrasonography, Prenatal/*methods
EDAT- 2017/02/12 06:00
MHDA- 2017/07/01 06:00
CRDT- 2017/02/11 06:00
PHST- 2017/02/11 06:00 [entrez]
PHST- 2017/02/12 06:00 [pubmed]
PHST- 2017/07/01 06:00 [medline]
AID - 940634021 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.01.021 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):89-92. doi: 
      10.3760/cma.j.issn.1003-9406.2017.01.021.