PMID- 34839516
OWN - NLM
STAT- MEDLINE
DCOM- 20211130
LR  - 20211130
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 12
DP  - 2021 Dec 10
TI  - [Genetic analysis of a recurrent abnormal pregnancy case caused by a cryptic 
      reciprocal autosomal translocation].
PG  - 1241-1244
LID - 10.3760/cma.j.cn511374-20200827-00627 [doi]
AB  - OBJECTIVE: To provide genetic counseling for a couple with recurrent detection of 
      fetal structural abnormality during second trimester pregnancy. METHODS: The 
      fetal tissue and peripheral blood samples of the couple were subjected to G 
      banded chromosomal analysis, copy number variation sequencing (CNV-seq) and 
      fluorescence in situ hybridization (FISH) assays. RESULTS: CNV-seq has detected a 
      6.59 Mb duplication at 7p22.3-p22.1 and a 3.81 Mb deletion at 4p16.3 in the fetal 
      tissue, though conventional karyotyping results of both parents were normal. FISH 
      has confirmed that the father has harbored a cryptic translocation of 
      t(4;7)(7p+,4q+,4p+,7q+). CONCLUSION: The ultrasonographic abnormality of the 
      fetuses may be attributed to the 7p microduplication and 4p microdeletion derived 
      from the cryptic translocation carried by the father. Reciprocal translocation of 
      tiny chromosomal segments should be suspected for couples with recurrent adverse 
      pregnancies but apparently normal karyotypes.
FAU - He, Tianrong
AU  - He T
AD  - Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, 
      Sichuan 610041, China. yangyuan@scu.edu.cn.
FAU - Tao, Dachang
AU  - Tao D
FAU - Liu, Yunqiang
AU  - Liu Y
FAU - Yang, Yuan
AU  - Yang 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 Disorders
MH  - *DNA Copy Number Variations
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - Translocation, Genetic
EDAT- 2021/11/29 06:00
MHDA- 2021/12/01 06:00
CRDT- 2021/11/28 21:16
PHST- 2021/11/28 21:16 [entrez]
PHST- 2021/11/29 06:00 [pubmed]
PHST- 2021/12/01 06:00 [medline]
AID - 940638258 [pii]
AID - 10.3760/cma.j.cn511374-20200827-00627 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1241-1244. doi: 
      10.3760/cma.j.cn511374-20200827-00627.