PMID- 20340098
OWN - NLM
STAT- MEDLINE
DCOM- 20100812
LR  - 20220331
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 5
DP  - 2010 May
TI  - Insertional translocation detected using FISH confirmation of array-comparative 
      genomic hybridization (aCGH) results.
PG  - 1111-26
LID - 10.1002/ajmg.a.33278 [doi]
AB  - Insertional translocations (ITs) are rare events that require at least three 
      breaks in the chromosomes involved and thus qualify as complex chromosomal 
      rearrangements (CCR). In the current study, we identified 40 ITs from 
      approximately 18,000 clinical cases (1:500) using array-comparative genomic 
      hybridization (aCGH) in conjunction with fluorescence in situ hybridization 
      (FISH) confirmation of the aCGH findings, and parental follow-up studies. Both 
      submicroscopic and microscopically visible IT events were detected. They were 
      divided into three major categories: (1) simple intrachromosomal and 
      interchromosomal IT resulting in pure segmental trisomy, (2) complex IT involving 
      more than one abnormality, (3) deletion inherited from a parent with a balanced 
      IT resulting in pure segmental monosomy. Of the cases in which follow-up parental 
      studies were available, over half showed inheritance from an apparently 
      unaffected parent carrying the same unbalanced rearrangement detected in the 
      propositi, thus decreasing the likelihood that these IT events are clinically 
      relevant. Nevertheless, we identified six cases in which small submicroscopic 
      events were detected involving known disease-associated genes/genomic segments 
      and are likely to be pathogenic. We recommend that copy number gains detected by 
      clinical aCGH analysis should be confirmed using FISH analysis whenever possible 
      in order to determine the physical location of the duplicated segment. We 
      hypothesize that the increased use of aCGH in the clinic will demonstrate that IT 
      occurs more frequently than previously considered but can identify genomic 
      rearrangements with unclear clinical significance.
CI  - Copyright 2010 Wiley-Liss, Inc.
FAU - Kang, Sung-Hae L
AU  - Kang SH
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Shaw, Chad
AU  - Shaw C
FAU - Ou, Zhishuo
AU  - Ou Z
FAU - Eng, Patricia A
AU  - Eng PA
FAU - Cooper, M Lance
AU  - Cooper ML
FAU - Pursley, Amber N
AU  - Pursley AN
FAU - Sahoo, Trilochan
AU  - Sahoo T
FAU - Bacino, Carlos A
AU  - Bacino CA
FAU - Chinault, A Craig
AU  - Chinault AC
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
FAU - Patel, Ankita
AU  - Patel A
FAU - Lupski, James R
AU  - Lupski JR
FAU - Cheung, Sau Wai
AU  - Cheung SW
LA  - eng
GR  - T32 GM007526/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Comparative Genomic Hybridization/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Mutagenesis, Insertional/*genetics
MH  - Reproducibility of Results
MH  - *Translocation, Genetic
PMC - PMC3726029
MID - NIHMS442236
EDAT- 2010/03/27 06:00
MHDA- 2010/08/13 06:00
PMCR- 2013/07/29
CRDT- 2010/03/27 06:00
PHST- 2010/03/27 06:00 [entrez]
PHST- 2010/03/27 06:00 [pubmed]
PHST- 2010/08/13 06:00 [medline]
PHST- 2013/07/29 00:00 [pmc-release]
AID - 10.1002/ajmg.a.33278 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 May;152A(5):1111-26. doi: 10.1002/ajmg.a.33278.