Characterizing small supernumerary marker chromosomes with combination of multiple techniques.
Cytogenet Genome Res
; 136(1): 6-14, 2012.
Article
in En
| MEDLINE
| ID: mdl-22123409
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosome Aberrations
/
Chromosome Banding
/
In Situ Hybridization, Fluorescence
/
Microarray Analysis
/
Real-Time Polymerase Chain Reaction
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
Language:
En
Journal:
Cytogenet Genome Res
Journal subject:
GENETICA
Year:
2012
Document type:
Article
Affiliation country:
Estados Unidos