PMID- 20606397
OWN - NLM
STAT- MEDLINE
DCOM- 20100908
LR  - 20100817
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 129
IP  - 4
DP  - 2010
TI  - Telomere capture as a frequent mechanism for stabilization of the terminal 
      chromosomal deletion associated with inverted duplication.
PG  - 265-74
LID - 10.1159/000315887 [doi]
AB  - We report 4 interstitial inverted duplications with associated terminal deletions 
      (inv dup del) involving the short arms of chromosomes 5 and 8, and the long arm 
      of chromosome 13 by microarray-based comparative genomic hybridization (aCGH) 
      combined with chromosome banding (GTG banding) and fluorescence in situ 
      hybridization (FISH) analyses. Formation of the intermediate dicentric 
      chromosomes in 3 of them occurred through breakage-fusion-bridge cycle mechanism 
      (U-type exchange mechanism) and in the fourth one it occurred through the 
      mediation of the inverted low-copy repeats on chromosome 8p23.1. Two of these 4 
      inv dup del were confirmed and a third one was suspected to be associated with 
      telomere capture for the healing of the terminal deletions. These findings 
      indicate that a telomere capture mechanism is frequently used for stabilizing the 
      broken chromosome ends in this type of genomic rearrangements. In addition, the 
      inv dup del(13) represents the first observation of inv dup del on chromosome 13 
      in humans, the inv dup del(5) represents the first observation of inv dup del(5p) 
      with an associated telomere capture, and unique features of the remaining two inv 
      dup del(8p) were also discussed.
CI  - Copyright (c) 2010 S. Karger AG, Basel.
FAU - Yu, S
AU  - Yu S
AD  - Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City 
      School of Medicine, Kansas City, MO 64108, USA. syu1 @ cmh.edu
FAU - Graf, W D
AU  - Graf WD
LA  - eng
PT  - Journal Article
DEP - 20100706
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - *Chromosome Deletion
MH  - *Chromosome Inversion
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 5
MH  - Chromosomes, Human, Pair 8
MH  - *Gene Duplication
MH  - Humans
MH  - Nucleic Acid Hybridization
MH  - Telomere/*genetics
EDAT- 2010/07/08 06:00
MHDA- 2010/09/09 06:00
CRDT- 2010/07/08 06:00
PHST- 2010/01/25 00:00 [accepted]
PHST- 2010/07/08 06:00 [entrez]
PHST- 2010/07/08 06:00 [pubmed]
PHST- 2010/09/09 06:00 [medline]
AID - 000315887 [pii]
AID - 10.1159/000315887 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2010;129(4):265-74. doi: 10.1159/000315887. Epub 2010 Jul 
      6.