Abstract
Fluorescence in situ hybridization (FISH) and/or array-comparative genomic hybridization (aCGH) performed after initial banding cytogenetics is still the gold standard for detection of chromosomal rearrangements. Although aCGH provides a higher resolution, FISH has two main advantages over the array-based approaches: (1) it can be applied to characterize balanced as well as unbalanced rearrangements, whereas aCGH is restricted to unbalanced ones, and (2) chromosomal aberrations present in low level or complex mosaics can be characterized by FISH without any problems, while aCGH requires presence of over 50 % of aberrant cells in the sample for detection. Recently, a new FISH-based probe set was presented: the so-called pericentric-ladder-FISH (PCL-FISH) that enables characterization of chromosomal breakpoints especially in mosaic small supernumerary marker chromosomes (sSMC). It can also be applied on large inborn or acquired derivative chromosomes. The main feature of this set is that the probes are applied in a chromosome-specific manner and they align along the chromosome in average intervals of ten megabasepairs. Hence PCL-FISH provides denser coverage and a more precise anchorage on the human DNA-sequence than most other FISH-banding approaches.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Manolakos E, Vetro A, Kefalas K et al (2010) The use of array-CGH in a cohort of Greek children with developmental delay. Mol Cytogenet 3:22
Weimer J, Heidemann S, von Kaisenberg CS et al (2011) Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10. Mol Cytogenet 4:28
Tsuchiya KD, Opheim KE, Hannibal MC et al (2008) Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol Cytogenet 1:7
Iourov IY, Vorsanova SG, Yurov YB (2008) Chromosomal mosaicism goes global. Mol Cytogenet 1:26
van der Veken LT, Dieleman MMJ, Douben H et al (2010) Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. Mol Cytogenet 3:13
Liehr T, Heller A, Starke H et al (2002) FISH banding methods: applications in research and diagnostics. Exp Rev Mol Diagn 2:217–225
Lengauer C, Green ED, Cremer T (1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13:826–828
Liehr T, Starke H, Heller A et al (2006) Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet Genome Res 114:240–244
Hamid AB, Kreskowski K, Weise A et al (2012) How to narrow down chromosomal breakpoints in small and large derivative chromosomes – a new probe set. J Appl Genet 53:259–269
Liehr T, Claussen U, Starke H (2004) Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107:55–67
Liehr T, Mrasek K, Weise A et al (2006) Small supernumerary marker chromosomes-progress towards a genotype-phenotype correlation. Cytogenet Genome Res 112:23–34
Weise A, Liehr T (2009) Pre- and postnatal diagnostics and research on peripheral blood, chorion, amniocytes, and fibroblasts. In: Liehr T (ed) Fluorescence in situ hybridization (FISH) – application guide. Springer, Berlin, pp 113–122
Acknowledgments
This work was supported in parts by the DAAD and the China Scholarship Council as well as the DFG (LI 820/22-1).
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer Science+Business Media New York
About this protocol
Cite this protocol
Hamid, A.B., Fan, X., Kosyakova, N., Radhakrishnan, G., Liehr, T., Karamysheva, T. (2015). New BAC Probe Set to Narrow Down Chromosomal Breakpoints in Small and Large Derivative Chromosomes, Especially Suited for Mosaic Conditions. In: Narayanan, K. (eds) Bacterial Artificial Chromosomes. Methods in Molecular Biology, vol 1227. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-1652-8_14
Download citation
DOI: https://doi.org/10.1007/978-1-4939-1652-8_14
Published:
Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-1651-1
Online ISBN: 978-1-4939-1652-8
eBook Packages: Springer Protocols