PMID- 24959204
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140624
LR  - 20220408
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 7
DP  - 2014
TI  - Identification of a balanced complex chromosomal rearrangement involving 
      chromosomes 3, 18 and 21 with recurrent abortion: case report.
PG  - 39
LID - 10.1186/1755-8166-7-39 [doi]
AB  - BACKGROUND: Complex chromosome rearrangements (CCRs) are constitutional 
      structural rearrangements involve more than two breakpoints on two or more 
      chromosomes. Balanced CCR carriers are often phenotypically normal but associated 
      with high risk of spontaneous abortion and having abnormal offspring with 
      unbalanced karyotype. Here, we report a new familial case of complex chromosome 
      structural aberrations involving chromosomes 3, 18 and 21 and four breakpoints. 
      RESULTS: Cytogenetic investigations showed a complex chromosomal chromosome 
      rearrangement involving chromosomes 3, 18 and 21 with four breakpoints. 2 of 4 
      breakpoints were within the long arm of chromosome 18. Three-color fluorescence 
      in situ hybridization (FISH) confirmed the complexity of the rearrangement and 
      showed the derivative 21 to be composed of 3 distinct segments derived from 
      chromosomes 21, 18, and 3. The karyotype of CCR carrier was determined as 
      46,XX,t(3;21;18)(3pter --> 3q12::18q23 --> 18qter;21pter --> 21q22.1::18q21.1 --> 18q23::3q12 --> 3qter; 
      18pter --> 18q21.1::21q22.1 --> 21qter). DISCUSSION: A new complex balanced CCR was 
      characterized using conventional high resolution banding and molecular 
      cytogenetic analysis. The results provided an explanation of recurrent abortion 
      and abnormal child for balanced CCR carriers. Genetic counselling and prenatal 
      diagnosis for couples with a balanced CCR is necessary since they have a high 
      risk of having a child with unbalanced karyotype. Additional studies to reveal 
      the molecular mechanism of CCRs would help reveal the rule of inherited CCRs in 
      offspring.
FAU - Liao, Yaping
AU  - Liao Y
AD  - Department of Cell Biology, Bengbu Medical College, Bengbu 233030, China.
FAU - Wang, Liqun
AU  - Wang L
AD  - Department of obstetrics and gynecology, the First Affiliated Hospital, Bengbu 
      Medical College, Bengbu, Anhui, People's Republic of China.
FAU - Zhang, Ding
AU  - Zhang D
AD  - Department of Cell Biology, Bengbu Medical College, Bengbu 233030, China.
FAU - Liu, Changqing
AU  - Liu C
AD  - Department of Cell Biology, Bengbu Medical College, Bengbu 233030, China.
LA  - eng
PT  - Case Reports
DEP - 20140605
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4066826
OTO - NOTNLM
OT  - Complex chromosomal rearrangements (CCRs)
OT  - Fluorescence in situ hybridization
OT  - Genetic counseling
OT  - Recurrent spontaneous abortions
EDAT- 2014/06/25 06:00
MHDA- 2014/06/25 06:01
PMCR- 2014/06/05
CRDT- 2014/06/25 06:00
PHST- 2014/03/19 00:00 [received]
PHST- 2014/06/02 00:00 [accepted]
PHST- 2014/06/25 06:00 [entrez]
PHST- 2014/06/25 06:00 [pubmed]
PHST- 2014/06/25 06:01 [medline]
PHST- 2014/06/05 00:00 [pmc-release]
AID - 1755-8166-7-39 [pii]
AID - 10.1186/1755-8166-7-39 [doi]
PST - epublish
SO  - Mol Cytogenet. 2014 Jun 5;7:39. doi: 10.1186/1755-8166-7-39. eCollection 2014.