PMID- 36585011
OWN - NLM
STAT- MEDLINE
DCOM- 20230103
LR  - 20230103
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 1
DP  - 2023 Jan 10
TI  - [Prenatal diagnosis for a fetus with 5p deletion syndrome].
PG  - 101-104
LID - 10.3760/cma.j.cn511374-20220103-00002 [doi]
AB  - OBJECTIVE: To explore the genetic basis for a fetus with club foot detected upon 
      mid-pregnancy ultrasonography. METHODS: Amniotic fluid of the fetus and 
      peripheral blood samples of its parents were collected and subjected to G-banding 
      karyotype analysis and copy number variation sequencing (CNV-seq). The result was 
      verified by fluorescence in situ hybridization (FISH). RESULTS: The fetus and its 
      parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has 
      harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. 
      FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) 
      translocation. CONCLUSION: CNV-seq combined with FISH can effectively detect 
      cryptic chromosome aberrations, and can help to reduce severe birth defects and 
      provide a basis for prenatal genetic counseling.
FAU - Wang, Jun
AU  - Wang J
AD  - Reproductive Center, Zhejiang Taizhou Hospital, Taizhou, Zhejiang 317000, China. 
      zhangwgtzhospital@163.com.
FAU - Zhang, Weiguo
AU  - Zhang W
FAU - Yang, Huanli
AU  - Yang H
FAU - Ma, Xuejuan
AU  - Ma X
FAU - Li, Jiexian
AU  - Li J
FAU - Chen, Xing
AU  - Chen X
LA  - chi
PT  - English Abstract
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  - Pregnancy
MH  - Female
MH  - Humans
MH  - *Cri-du-Chat Syndrome
MH  - In Situ Hybridization, Fluorescence
MH  - DNA Copy Number Variations
MH  - Prenatal Diagnosis
MH  - Fetus
MH  - Amniotic Fluid
MH  - Chromosome Deletion
EDAT- 2022/12/31 06:00
MHDA- 2023/01/04 06:00
CRDT- 2022/12/30 20:12
PHST- 2022/12/30 20:12 [entrez]
PHST- 2022/12/31 06:00 [pubmed]
PHST- 2023/01/04 06:00 [medline]
AID - 940640021 [pii]
AID - 10.3760/cma.j.cn511374-20220103-00002 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):101-104. doi: 
      10.3760/cma.j.cn511374-20220103-00002.