PMID- 28878823
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 10
DP  - 2017
TI  - A de novo complex chromosome rearrangement associated with multisystematic 
      abnormalities, a case report.
PG  - 32
LID - 10.1186/s13039-017-0332-6 [doi]
LID - 32
AB  - BACKGROUND: Complex chromosomal rearrangements (CCRs) are constitutional 
      structural rearrangements that involve three or more chromosomes or that have 
      more than two breakpoints. CASE PRESENTATION: Here, we describe a four-way CCR 
      involving chromosomes 4, 5, 6 and 8. The patient had mild multisystematic 
      abnormalities during his development, including defects in his eyes and teeth, 
      exomphalos and asthenozoospermia. His wife had two spontaneous abortions during 
      the first trimester. The translocations in 4q27, 5q22, 6q22.3, and 8p11.2 were 
      diagnosed by conventional cytogenetic analysis and confirmed by fluorescence in 
      situ hybridization(FISH). After analysis using a SNP array, we defined three 
      microdeletions, including 0.89 Mb on chromosome 4, 5.39 Mb on chromosome 5 and 
      0.43 Mb on chromosome 8. His mother had a chimera karyotype of 47, XXX[5]/45, 
      X[4]/46, XX[91]; the other chromosomes were normal. After one cycle of in vitro 
      fertility (IVF) treatment followed by preimplantation genetic diagnosis (PGD), 
      they obtained two embryos, but neither was balanced. CONCLUSIONS: The patient's 
      phenotype resulted from the CCR and microdeletion of chromosomes 4, 5 and 8. The 
      couple decided to use artificial insemination by donor (AID) technology.
FAU - Tian, Chan
AU  - Tian C
AD  - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking 
      University Third Hospital, Beijing, 100191 China. ISNI: 0000 0004 0605 3760. 
      GRID: grid.411642.4
AD  - Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key 
      Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, 
      Beijing, 100191 China.
FAU - Li, Dan
AU  - Li D
AD  - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking 
      University Third Hospital, Beijing, 100191 China. ISNI: 0000 0004 0605 3760. 
      GRID: grid.411642.4
FAU - Liu, Ping
AU  - Liu P
AD  - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking 
      University Third Hospital, Beijing, 100191 China. ISNI: 0000 0004 0605 3760. 
      GRID: grid.411642.4
AD  - Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key 
      Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, 
      Beijing, 100191 China.
FAU - Jiao, Liping
AU  - Jiao L
AD  - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking 
      University Third Hospital, Beijing, 100191 China. ISNI: 0000 0004 0605 3760. 
      GRID: grid.411642.4
FAU - Gao, Xuefeng
AU  - Gao X
AD  - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking 
      University Third Hospital, Beijing, 100191 China. ISNI: 0000 0004 0605 3760. 
      GRID: grid.411642.4
FAU - Qiao, Jie
AU  - Qiao J
AD  - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking 
      University Third Hospital, Beijing, 100191 China. ISNI: 0000 0004 0605 3760. 
      GRID: grid.411642.4
AD  - Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key 
      Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, 
      Beijing, 100191 China.
LA  - eng
PT  - Case Reports
DEP - 20170902
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC5581479
OTO - NOTNLM
OT  - AID
OT  - CCR
OT  - FISH
OT  - Microdeletion
OT  - Rearrangement
OT  - SNP-array
COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: This study was approved by the Ethics 
      Committee of Peking University Third Hospital. The committee's reference number 
      is 2016S2-021. The patient gave his consent for participation in this study. 
      CONSENT FOR PUBLICATION: Informed written consent for publication of the clinical 
      details was obtained from the patient. A copy of the consent form is available 
      for inspection by the editors. COMPETING INTERESTS: The authors declare that they 
      have no competing interests. PUBLISHER'S NOTE: Springer Nature remains neutral 
      with regard to jurisdictional claims in published maps and institutional 
      affiliations.
EDAT- 2017/09/08 06:00
MHDA- 2017/09/08 06:01
PMCR- 2017/09/02
CRDT- 2017/09/08 06:00
PHST- 2017/03/20 00:00 [received]
PHST- 2017/08/10 00:00 [accepted]
PHST- 2017/09/08 06:00 [entrez]
PHST- 2017/09/08 06:00 [pubmed]
PHST- 2017/09/08 06:01 [medline]
PHST- 2017/09/02 00:00 [pmc-release]
AID - 332 [pii]
AID - 10.1186/s13039-017-0332-6 [doi]
PST - epublish
SO  - Mol Cytogenet. 2017 Sep 2;10:32. doi: 10.1186/s13039-017-0332-6. eCollection 
      2017.