PMID- 29188621
OWN - NLM
STAT- MEDLINE
DCOM- 20180313
LR  - 20180313
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 6
DP  - 2017 Dec 10
TI  - [Prenatal diagnosis of a fetus with Miller-Dieker syndrome].
PG  - 879-883
LID - 10.3760/cma.j.issn.1003-9406.2017.06.021 [doi]
AB  - OBJECTIVE: To report on prenatal diagnosis of a fetus with Miller-Dieker syndrome 
      (MDS) and explore its genotype - phenotype correlation. METHODS: Chromosome 
      karyotyping, bacterial artificial chromosome on beads (BACs-on-Beads, BoBs), 
      fluorescence in situ hybridization (FISH), and single nucleotide polymorphism 
      microarray (SNP array) were applied in conjunction for the prenatal diagnosis of 
      a fetus with abnormal ultrasound findings. RESULTS: A 17p13.3 microdeletion was 
      detected with the BoBs assay, and the result was confirmed by FISH. With the SNP 
      array, the deletion was mapped to chromosome 17, with its range determined to be 
      5.2 Mb. On high-resolution banding analysis and BoB assay, the deletion was not 
      found in either parent. CONCLUSION: The combined use of BoBs, FISH and SNP array 
      has enabled prenatal diagnosis of a fetus with MDS. Attention should be paid to 
      microdeletions and microduplications which can be missed by conventional 
      chromosomal karyotyping analysis.
FAU - Xu, Liangpu
AU  - Xu L
AD  - Fujian Provincial Maternity and Children's Hospital, Key Laboratory for Prenatal 
      Diagnosis and Birth Defect Research, Fujian Medical University, Fuzhou, Fujian 
      350001, China. Email: ipxiu304@126.com.
FAU - Huang, Hailong
AU  - Huang H
FAU - Wang, Yan
AU  - Wang Y
FAU - An, Gang
AU  - An G
FAU - Lin, Na
AU  - Lin N
FAU - Zhang, Min
AU  - Zhang M
FAU - Wu, Xiaoqing
AU  - Wu X
FAU - He, Deqin
AU  - He D
FAU - Chen, Meihuan
AU  - Chen M
FAU - Lin, Yuan
AU  - Lin Y
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  - Adult
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 17
MH  - Classical Lissencephalies and Subcortical Band Heterotopias/*diagnosis/genetics
MH  - Female
MH  - Genetic Association Studies
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2017/12/01 06:00
MHDA- 2018/03/14 06:00
CRDT- 2017/12/01 06:00
PHST- 2017/12/01 06:00 [entrez]
PHST- 2017/12/01 06:00 [pubmed]
PHST- 2018/03/14 06:00 [medline]
AID - 940634180 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.06.021 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):879-883. doi: 
      10.3760/cma.j.issn.1003-9406.2017.06.021.