PMID- 24335332
OWN - NLM
STAT- MEDLINE
DCOM- 20140415
LR  - 20140211
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 142
IP  - 2
DP  - 2014
TI  - Secondary complex chromosome rearrangement identified by chromosome analysis and 
      FISH subsequent to detection of an unbalanced derivative chromosome 12 by SNP 
      array analysis.
PG  - 129-33
LID - 10.1159/000356558 [doi]
AB  - Microarray analysis is used to detect small copy number changes (deletions and 
      duplications) that may be associated with genetic syndromes and phenotypic 
      abnormalities. However, there are limitations to what microarrays are able to 
      detect. We present a patient referred for microarray in whom chromosome analysis 
      identified a more complex structural rearrangement than was indicated by the 
      microarray. Our studies included Affymetrix Cytoscan HD array, chromosome 
      analysis and fluorescence in situ hybridization (FISH) using a subtelomere probe 
      targeting chromosome 3. Array analysis revealed a 6.45-Mb terminal duplication of 
      3q28q29 and a 1.02-Mb terminal deletion of 12p13.33. This suggested an unbalanced 
      translocation derivative. In order to investigate visibility of the 
      rearrangement, chromosome analysis was performed, revealing an additional 
      balanced complex chromosome rearrangement involving chromosomes 3 and 11, 
      including a translocation with breakpoints at 3p13 and 11p11.2, as well as a 
      paracentric inversion of segment 3p25p13 translocated onto chromosome 11. 
      Subtelomere FISH confirmed that the duplicated chromosome 3q material observed in 
      the array analysis was localized to distal 12p. This case clearly illustrates the 
      combined utilization of classic cytogenetics, FISH and array technologies to 
      better characterize chromosomal abnormalities.
CI  - (c) 2013 S. Karger AG, Basel.
FAU - Burnside, R D
AU  - Burnside RD
AD  - Laboratory Corporation of America, Center for Molecular Biology and Pathology, 
      Department of Cytogenetics, Research Triangle Park, N.C., USA.
FAU - Spudich, L
AU  - Spudich L
FAU - Rush, B
AU  - Rush B
FAU - Kubendran, S
AU  - Kubendran S
FAU - Schaefer, G B
AU  - Schaefer GB
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20131206
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Child
MH  - Chromosome Aberrations
MH  - Chromosome Disorders/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 3/genetics
MH  - DNA Copy Number Variations/genetics
MH  - Developmental Disabilities/*genetics
MH  - Fetal Alcohol Spectrum Disorders/genetics
MH  - Gene Rearrangement/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis
MH  - Polymorphism, Single Nucleotide
EDAT- 2013/12/18 06:00
MHDA- 2014/04/16 06:00
CRDT- 2013/12/17 06:00
PHST- 2013/10/02 00:00 [accepted]
PHST- 2013/12/17 06:00 [entrez]
PHST- 2013/12/18 06:00 [pubmed]
PHST- 2014/04/16 06:00 [medline]
AID - 000356558 [pii]
AID - 10.1159/000356558 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2014;142(2):129-33. doi: 10.1159/000356558. Epub 2013 Dec 
      6.