PMID- 35590339
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231105
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Linking)
VI  - 15
IP  - 1
DP  - 2022 May 19
TI  - Analysis of complex chromosomal rearrangements using a combination of current 
      molecular cytogenetic techniques.
PG  - 20
LID - 10.1186/s13039-022-00597-y [doi]
AB  - BACKGROUND: Using combined fluorescence in situ hybridization (FISH) and 
      high-throughput whole-genome sequencing (WGS) molecular cytogenetic technology, 
      we aim to analyze the junction breakpoints of complex chromosome rearrangements 
      (CCR) that were difficult to identify by conventional karyotyping analysis and 
      further characterize the genetic causes of recurrent spontaneous abortion. 
      RESULTS: By leveraging a combination of current molecular techniques, including 
      chromosome karyotype analysis, FISH, and WGS, we comprehensively characterized 
      the extremely complex chromosomal abnormalities in this patient with recurrent 
      spontaneous abortions. Here, we demonstrated that combining these current 
      established molecular techniques is an effective and efficient workflow to 
      identify the structural abnormalities of complex chromosomes and locate the 
      rearrangement of DNA fragments. CONCLUSIONS: In conclusion, leveraging results 
      from multiple molecular and cytogenetic techniques can provide the most 
      comprehensive genetic analysis for genetic etiology research, diagnosis, and 
      genetic counseling for patients with recurrent spontaneous abortion and embryonic 
      abortion.
CI  - (c) 2022. The Author(s).
FAU - He, Ping
AU  - He P
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, Guangxi, China.
FAU - Wei, Xiaoni
AU  - Wei X
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, Guangxi, China.
FAU - Xu, Yuchan
AU  - Xu Y
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, Guangxi, China.
FAU - Huang, Jun
AU  - Huang J
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, Guangxi, China.
FAU - Tang, Ning
AU  - Tang N
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, Guangxi, China.
FAU - Yan, Tizhen
AU  - Yan T
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, Guangxi, China.
FAU - Yang, Chuanchun
AU  - Yang C
AD  - CheerLand Biological Technology Co., Ltd., Shenzhen, China.
FAU - Lu, Kangmo
AU  - Lu K
AD  - Prenatal Diagnosis Center, Affiliated Foshan Maternity & Child Healthcare 
      Hospital, Southern Medical University (Foshan Maternity & Child Healthcare 
      Hospital), Foshan, Guangdong, China. kangmolu@qq.com.
LA  - eng
GR  - 2018AF10501/the Liuzhou Medical Genetics Research Center (Cultivation and 
      Construction)/
GR  - 2018AF10501/the Liuzhou Medical Genetics Research Center (Cultivation and 
      Construction)/
GR  - 2018AF10501/the Liuzhou Medical Genetics Research Center (Cultivation and 
      Construction)/
GR  - 2018AF10501/the Liuzhou Medical Genetics Research Center (Cultivation and 
      Construction)/
GR  - 2018AF10501/the Liuzhou Medical Genetics Research Center (Cultivation and 
      Construction)/
GR  - G202003028/the Guangxi medical high-level backbone talents '139'plan training 
      target special/
GR  - G202003028/the Guangxi medical high-level backbone talents '139'plan training 
      target special/
GR  - G202003028/the Guangxi medical high-level backbone talents '139'plan training 
      target special/
GR  - G202003028/the Guangxi medical high-level backbone talents '139'plan training 
      target special/
GR  - G202003028/the Guangxi medical high-level backbone talents '139'plan training 
      target special/
GR  - Z20190789/the Liuzhou city 1/10/100 talent special project, Health Department 
      Research Fund of Guangxi Zhuang Autonomous Region, Guangxi, People's Republic of 
      China/
GR  - Z20190789/the Liuzhou city 1/10/100 talent special project, Health Department 
      Research Fund of Guangxi Zhuang Autonomous Region, Guangxi, People's Republic of 
      China/
GR  - Z20190789/the Liuzhou city 1/10/100 talent special project, Health Department 
      Research Fund of Guangxi Zhuang Autonomous Region, Guangxi, People's Republic of 
      China/
GR  - Z20190789/the Liuzhou city 1/10/100 talent special project, Health Department 
      Research Fund of Guangxi Zhuang Autonomous Region, Guangxi, People's Republic of 
      China/
GR  - Z20190789/the Liuzhou city 1/10/100 talent special project, Health Department 
      Research Fund of Guangxi Zhuang Autonomous Region, Guangxi, People's Republic of 
      China/
PT  - Journal Article
DEP - 20220519
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC9118736
OTO - NOTNLM
OT  - Complex chromosome rearrangements (CCR)
OT  - Fluorescence in situ hybridization (FISH)
OT  - High-throughput whole-genome sequencing (WGS)
OT  - Karyotype analysis
EDAT- 2022/05/20 06:00
MHDA- 2022/05/20 06:01
CRDT- 2022/05/19 23:48
PHST- 2022/02/28 00:00 [received]
PHST- 2022/04/28 00:00 [accepted]
PHST- 2022/05/19 23:48 [entrez]
PHST- 2022/05/20 06:00 [pubmed]
PHST- 2022/05/20 06:01 [medline]
AID - 10.1186/s13039-022-00597-y [pii]
AID - 10.1186/s13039-022-00597-y [doi]
PST - epublish
SO  - Mol Cytogenet. 2022 May 19;15(1):20. doi: 10.1186/s13039-022-00597-y.