PMID- 22123409
OWN - NLM
STAT- MEDLINE
DCOM- 20120605
LR  - 20120130
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 136
IP  - 1
DP  - 2012
TI  - Characterizing small supernumerary marker chromosomes with combination of 
      multiple techniques.
PG  - 6-14
LID - 10.1159/000334271 [doi]
AB  - Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) 
      were assessed by combination of diverse techniques including genome-wide 
      high-resolution chromosomal microarray (CMA), chromosome banding analysis (G 
      banding), fluorescence in situ hybridization (FISH), and quantitative real-time 
      PCR (qPCR). Of the 14 sSMCs, 4 were complex sSMCs composed of genomic materials 
      from more than one chromosome, 7 were simple sSMCs which contain only centromeric 
      and/or pericentromeric regions from individual chromosomes, and the remaining 3 
      sSMCs contained inverted duplications. CMA precisely defined the breakpoints and 
      genetic contents in 12 of the 14 sSMCs but failed to identify 2 of the 14 sSMCs 
      due to lack of detectable euchromatin. In addition, CMA revealed unexpected 
      genomic abnormalities in 2 cases. FISH techniques were necessary for the 
      determination of the physical location, structure, formation mechanism, mosaic 
      level, and origin of all these sSMCs. Our data emphasize the necessity to combine 
      these methods for comprehensive characterization of sSMCs.
CI  - Copyright (c) 2011 S. Karger AG, Basel.
FAU - Yu, S
AU  - Yu S
AD  - Department of Pathology, Children's Mercy Hospitals and Clinics, Kansas City, MO 
      64108, USA. syu1@cmh.edu
FAU - Fiedler, S D
AU  - Fiedler SD
FAU - Brawner, S J
AU  - Brawner SJ
FAU - Joyce, J M
AU  - Joyce JM
FAU - Zhou, X G
AU  - Zhou XG
FAU - Liu, H Y
AU  - Liu HY
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20111123
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
RN  - 0 (Euchromatin)
SB  - IM
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Banding/*methods
MH  - Euchromatin/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Microarray Analysis/*methods
MH  - Real-Time Polymerase Chain Reaction/*methods
EDAT- 2011/11/30 06:00
MHDA- 2012/06/06 06:00
CRDT- 2011/11/30 06:00
PHST- 2011/08/01 00:00 [accepted]
PHST- 2011/11/30 06:00 [entrez]
PHST- 2011/11/30 06:00 [pubmed]
PHST- 2012/06/06 06:00 [medline]
AID - 000334271 [pii]
AID - 10.1159/000334271 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2012;136(1):6-14. doi: 10.1159/000334271. Epub 2011 Nov 23.