PMID- 32219838
OWN - NLM
STAT- MEDLINE
DCOM- 20200402
LR  - 20200402
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 4
DP  - 2020 Apr 10
TI  - [Clinical feature and pathogenic analysis of a fetus with split hand-foot 
      malformation].
PG  - 462-466
LID - 10.3760/cma.j.issn.1003-9406.2020.04.025 [doi]
AB  - OBJECTIVE: To analyze the clinical feature of a fetus with split hand-foot 
      malformation (SHFM) and to explore its etiology. METHODS: Ultrasonographic 
      finding of the fetus and X-ray examination of the abortus were reviewed. Genomic 
      copy number variations (CNVs) of the fetus was analyzed by next-generation 
      sequencing (NGS). Its parents were subjected to chromosomal karyotyping, NGS and 
      fluorescence in situ hybridization (FISH) assays. Real-time fluorescence 
      quantitative PCR was used to measure the expression of genes from the region 
      containing abnormal CNVs. RESULTS: Ultrasonography and X-ray revealed that the 
      right hand and both feet of the fetus were in a V-shape, which was suggestive of 
      SFHM. The results of NGS revealed that the fetus has carried a 0.36 Mb deletion 
      at 7q21.3 region. FISH and NGS analysis of both parents were normal. Real-time 
      fluorescence quantitative PCR confirmed that the fetus carried a single copy of 
      DYNC1I1 gene, while the copy numbers of SEM1, DLX5 and DLX6 genes were normal. 
      CONCLUSION: The 7q21.3 microdeletion probably underlies the SHFM of the fetus, 
      which has a de novo origin.
FAU - Li, Chuang
AU  - Li C
AD  - Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China 
      Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning 
      Province, Shenyang, Liaoning 110004, China. 243583780@qq.com.
FAU - Lyu, Yuan
AU  - Lyu Y
FAU - Hou, Rui
AU  - Hou R
FAU - Liu, Caixia
AU  - Liu C
FAU - Li-Ling, Jesse
AU  - Li-Ling J
FAU - Li, Huan
AU  - Li H
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  - 0 (DYNC1I1 protein, human)
RN  - EC 3.6.4.2 (Cytoplasmic Dyneins)
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Cytoplasmic Dyneins/*genetics
MH  - DNA Copy Number Variations
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Limb Deformities, Congenital/*genetics
EDAT- 2020/03/29 06:00
MHDA- 2020/04/03 06:00
CRDT- 2020/03/29 06:00
PHST- 2020/03/29 06:00 [entrez]
PHST- 2020/03/29 06:00 [pubmed]
PHST- 2020/04/03 06:00 [medline]
AID - 940637093 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2020.04.025 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):462-466. doi: 
      10.3760/cma.j.issn.1003-9406.2020.04.025.