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mFISH - BANDING

Some facts

There are many approaches to distinguish chromosomal sub-regions in or by mFISH banding. Most important are MCB/ mband and RX-FISH.

mFISH banding was introduced, as mFISH methods using human wcp probes reach their limits, when exact breakpoint localization of translocations are required, or in case of intra-chromosomal rearrangements such as interstitial deletions or inversions. Thus, different approaches have been developed to overcome that limitations.

For review see:

  • Hopward VL, Hada CJ, Glassman AB (2002) Color banding. In: Molecular Cytogenetics - Protocols and Applications. Ed. Fan Y-S. pp 133-142.
  • Liehr T, Heller A, Starke H, Claussen U (2002) Fluorescence in situ hybridization (FISH) banding methods - applications in research and diagnostic. Expert Review of Molecular Diagnostics 2:217-225.
  • Liehr T, Starke H, Weise A, Lehrer H, Claussen U (2004) Multicolor FISH probe sets and their applications. Histol Histopathol 19:229-237.
  • Liehr T, Starke H, Heller A, Kosyakova N, Mrasek K, Gross M, Karst C, Steinhaeuser U, Hunstig F, Fickelscher I, Kuechler A, Trifonov V, Romanenko SA, Weise A (2006) Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet Genome Res 114: 240-244.
  • Liehr T, Gross M, Karst C, Glaser M, Mrasek K, Starke H, Weise A, Mkrtchyan H, Kuechler A (2006) FISH banding in tumor cytogenetics. Cancer Genet Cytogenet 164:88-89.
  • Liehr T, Weise A, Hinreiner S, Mkrtchyan H, Mrasek K, Kosyakova N (2010) Characterization of chromosomal rearrangements using multicolor-banding (MCB/m-band). Methods Mol Biol 659:231-238.

 


Multicolor Banding = MCB/ m-band and multitude MCB = mMCB in human

This technique is based on changing fluorescence intensity ratios along the chromosomes, which are used to assign different pseudo-colours to specific chromosomal regions and allows the differentiation of chromosome region specific areas at the band and sub-band level. The MCB technique provides moreover the possibility to analyse chromosomes irrespective of their condensation grades.

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  • Al Achkar W, Wafa A, Mkrtchyan H, Moassass F, Liehr T (2009) Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report. Mol Cytogenet 2:21.
  • Al Achkar W, Wafa A, Mkrtchyan H, Moassas F, Liehr T (2010) A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3. Mol Cytogenet 3:6.
  • Al Achkar W, Wafa A, Mkrtchyan H, Moassass F, Liehr T (2010) A unique complex translocation involving six different chromosomes in a case of childhood acute lymphoblastic leukemia with the Philadelphia chromosome and adverse prognosis. Oncol Lett 1:801-804.
  • Al Achkar W, Wafa A, Ali BY, Manvelyan M, Liehr T (2010) A rare chronic myeloid leukemia case with Philadelphia chromosome, BCR-ABL e13a3 transcript and complex translocation involving four different chromosomes. Oncol Lett 1:797-800.
  • Al Achkar W, Wafa A, Mkrtchyan H, Moassass F, Liehr T (2010) A rare case of Philadelphia chromosome-positive chronic myelogenous leukemia with inversion in chromosome 9 and t(10;17). Oncol Lett 1:793-795.
  • Al-Achkar W, Wafa A, Manvelyan M, Ikhtiar A, Liehr T (2010) De novo translocation involving two chromosomes in adult prolymphocytic leukemia--a rare case. Leuk Res 34:e345-347.
  • Al-Achkar W, Wafa, Liehr T (2011) Complex translocation involving four chromosomes in a novel Philadelphia-positive chronic myeloid leukemia case. Onc Lett 2:273-276.
  • Al Achkar W, Wafa A, Moassass F, Liehr T (2010) Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl. Mol Cytogenet 4;3:18.
  • Al-Achkar W, Wafa A, Moassass F, Liehr (2012) A chronic myeloid leukemia case with a unique variant Philadelphia translocation: t(9;22;21)(q34;q11;p12). Oncol Lett 3: 1027-1029.
  • Al-Achkar W, Wafa A, Moassass F, Liehr T (2012) A unique cytogenetic abnormality, t(2;7)(p13.1;p21.3), in a Philadelphia-positive chronic myeloid leukemia. Onc Letters 4: 209-212.
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  • Al-Achkar W, Wafa A, Liehr T (2013)A new t(9;11;20;22)(q34;p11.2;q11.21;q11) in a Philadelphia-positive chronic myeloid leukemia case. Oncol Lett 5: 605-608.
  • Al-Achkar W, Wafa A, Moassass F, Klein E, Liehr T (2013) Multiple copies of BCR-ABL fusion gene on two isodicentric Philadelphia chromosomes in an imatinib mesylate-resistant chronic myeloid leukemia patient. Oncol Lett 5: 1579-1582.
  • Al-Achkar W, Wafa A, Ikhtiar A, Liehr T (2013) Three-way Philadelphia translocation t(9;10;22)(q34;p11.2;q11.2) as a secondary abnormality in an imatinib mesylate resistant chronic myeloid leukemia patient. Oncol Lett 5: 1656-1658.
  • Al Achkar W, Wafa A, Aljapawe A, Liehr T (2013) A de novo del(9)(p22.3) in a primary plasma cell leukemia case. Mol Cytogenet, 6:33.
  • Al-achkar W, Aljapawe A, Othman MA, Wafa A (2013) A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints. Molecular Cytogenetics 6:18.
  • Al-Achkar W, Moassass F, Ikhtiar A, Othman MAK, Liehr T, Wafa A (2013) Cytogenetic evolution in a patient with chronic developing a secondary acute myelogenous leukemia subtype M5 resistant to Imatinib mesylate therapy. J Leuk 1: 118.
  • Al Achkar W, Wafa A, Aljapawe A, Othman MAK, Liehr T (2013) A novel cytogenetic abnormality r(7)(::p11.2->q36.3::) in a Philadelphia-positive chronic myeloid leukemia case. Case Rep Clin Med 2: 517-520.
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  • Barber JC, Hall V, Maloney VK, Huang S, Roberts AM, Brady AF, Foulds N, Bewes B, Volleth M, Liehr T, Mehnert K, Bateman M, White H (2013) 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. Eur J Hum Genet 21:182-189.
  • Bartels I, Starke H, Argyriou L, Sauter SM, Zoll B, Liehr T (2007) An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype. Eur J Med Genet 50:133-138
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  • Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Lefort G, Lespinasse J, Sarda P, Liehr T, Hamamah S, Pellestor F (2007) Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm. Mol Hum Reprod 13:751-756.
  • Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Manvelyan M, Hunstig F, Lefort G, Weise A, Lespinasse J, Sarda P, Liehr T, Hamamah S, Pellestor F (2009) Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions. Eur J Hum Genet 17:44-50.
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  • Ergul E, Liehr T, Mrasek K, Sazci A (2009) A de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male. Fertil Steril 92:391.e9-391.e12.
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  • Faria De Figueiredo A, Liehr T, Bhatt S, Binato R, Tavares De Souza M, Rodrigues Capela De Matos R, De Jesus Marques Salles T, Jordy FC, Ribeiro RC, Abdelhay E, Luiza Macedo Silva M (2011) A complex karyotype masked a cryptic variant t(8;21)(q22;q22) in a child with acute myeloid leukemia. Leuk Lymphoma 52:1593-1596.
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  • Fan X, Pinthong K, Mkrtchyan H, Siripiyasing P, Kosyakova N, Supiwong W, Tanomtong A, Chaveerach A, Liehr T, de Bello Cioffi M, Weise A (2013) First detailed reconstruction of the karyotype of Trachypithecus cristatus (Mammalia: Cercopithecidae). Mol Cytogenet 6:58.
  • Fan X, Sangpakdee W, Tanomtong A, Chaveerach A, Pinthong K, Pornnarong S, Supiwong W, Trifonov VA, Hovhannisyan GG, Aroutouinian RM, Liehr T, Weise A (2014) Molecular cytogenetic analysis of Thai southern pig-tailed macaque (Macaca nemestrina) by multicolor banding. Proceedings of Yerevan State University 2014:46-50.
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  • Gersak K, Writzl K, Veble A, Liehr T (2010) Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome. Genet Couns. 2010;21(3):335-342.
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  • Guilherme RS, Dutra ARN, Perez AB, Takeno SS, Oliveira MM, Kulikowski D, Klein E, Hamid AB, Liehr T, Melaragno MI (2013) First report of a small supernumerary der(8;14) marker chromosome. Cytogenet Genome Res 139:284-288.
  • Guilherme RS, Klein E, Hamid AB, Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen MB, Manolakos E, Kosyakova N, Liehr T (2013) Human ring chromosomes - new insights for their clinical significance. Balk J Med Genet 16:13-19.
  • Guilherme RS, Cernach MC, Sfakianakis TE, Takeno SS, Nardozza LM, Rossi C, Bhatt SS, Liehr T, Melaragno MI (2013) A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification. Cytogenet Genome Res 141:317-323.
  • Hada M, Meador JA, Cucinotta FA, Gonda SR, Wu H (2007) Chromosome aberrations induced by dual exposure of protons and iron ions. Radiat Environ Biophys 46:125-129.
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  • Heller A, Starke H, Trifonov V, Rubtsov N, Wedding U, Loncarevic I, Bleck C, Claussen U, Liehr T (2002) A complex translocation event between the two homologues of chromosomes 5 leading to a del(5)(q21q33) as a sole aberration in a case clinically diagnosed as CML - characterization of the aberration by multicolor banding (MCB). In J Onc, Vol. 20, pp 1179-1181.
  • Heller A, Trifonov V, Rubtsov N, Sauerbrey A, Starke H, Loncarevic IF, Claussen U, Liehr T. (2003) Complex chromosomal rearrangements in a secondary acute myeloblastic leukemia after chemotherapy in TRAPS. Oncol Reports, 10: 1789-1792.
  • Heller A, Brecevic L, Glaser M, Loncarevic I, Gebhart E, Claussen U, Liehr T (2003) Trisomy 8 as the sole chromosomal aberration in myelocytic malignancies: a comprehensive molecular cytogenetic analysis reveals no cryptic aberrations. Cancer Genet Cytogenet 146:81-3.
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  • Heller A, Fricke HJ, Starke H, Loncarevic IF, Claussen U, Liehr T (2004) Characterization of a highly aberrant plasma cell leukemia karyotype: a case report. Oncol Rep 11:89-92.
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  • Hortsmann M, Durante M, Johannes C, Obe G (2005) Chromosomal intrachanges induced by swift iron ions. Adv Space Res 35:276-279.
  • Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, Claussen U, Stromme P, Akre B, Vermeulen S (2003) Ten years follow up of a boy with a complex chromosomal rearrangement: Going from a > 5 to 15-breakpoint CCR. Am J Med Genet 118A: 235-240.
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  • Rodriguez L, Starke H, Guardia NM, Tönnies H, Neitzel H, Kozlowski P, Mazauric ML, Heller A, Grondona FL, Mansilla E, Santos Munoz MJ, Liehr T, Martinez-Frias ML (2005) Three new cases with a supernumerary ring chromosome 1. Clin Dysmorphol 14:169-175.
  • Rodríguez L, Bhatt SS, García-Castro M, Plasencia A, Fernández-Toral J, Abarca E, de Bello Cioffi M, Liehr T (2014) A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion. Gene 535:165-169.
  • Rosenhahn J, Weise A, Michel S, Hennig K, Hartmann I, Schiefner J, Schubert K, Liehr T, von Eggeling F, Loncarevic IF (2007) Cytogenetic characterisation and proteomic profiling of the Imatinib-resistant cell line KCL22-R. Int J Oncol 31:121-128.
  • Rudolph C, Steinemann D, Von Neuhoff N, Gadzicki D, Ripperger T, Drexler HG, Mrasek K, Liehr T, Claussen U, Emura M, Schröck E, Schlegelberger B (2004) Molecular cytogenetic characterization of the mantle cell lymphoma cell line GRANTA-519. Cancer Genet Cytogenet 153: 144-150.
  • Rudolph C, Liehr T, Steinemann D, Emura M, Daibata M, Matsuo Y, Emi N, Abe M, Lai R, Mrasek K, Claussen U, Schlegelberger B (2006) Different breakage-prone regions on chromosome 1 detected in t(11;14)-positive mantle cell lymphoma cell lines and multiple myeloma cell lines are associated with different tumor progression-related mechanisms. Cytogenet Genome Res 112: 213-221.
  • Sarri C, Gyftodimou Y, Grigoriadou M, Pandelia E, Kalogirou S, Kokotas H, Mrasek K, Weise A, Petersen MB (2006) Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face. Cytogenet Genome Res 114:330-337.
  • Sárová I, Brezinová J, Zemanová Z, Lizcová L, Berková A, Izáková S, Malinová E, Fuchs O, Kostecka A, Provazníková D, Filkuková J, Maaloufová J, Starý J, Michalová K (2009) A partial nontandem duplication of the MLL gene in four patients with acute myeloid leukemia. Cancer Genet Cytogenet 195:150-156.
  • Sárová I, Brezinová J, Zemanová Z, Izáková S, Lizcová L, Malinová E, Berková A, Cermák J, Maaloufová J, Nováková L, Michalová K (2010) Cytogenetic manifestation of chromosome 11 duplication/amplification in acute myeloid leukemia. Cancer Genet Cytogenet 199:121-127.
  • Sarova I, Brezinova J, Zemanova Z, Bystricka D, Krejcik Z, Soukup P, Vydra J, Cermak J, Jonasova A, Michalova K (2013) Characterization of chromosome 11 breakpoints and the areas of deletion and amplification in patients with newly diagnosed acute myeloid leukemia. Genes Chromosomes Cancer 52:619-635. 
  • Sauter S, Von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B (2003) Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. Am J Med Genet 120A: 533-536.
  • Schaeferhenrich A, Beyer-Sehlmeyer G, Festag G, Kuechler A, Haag N, Weise A, Liehr T, Claussen U, Marian B, Sendt W, Scheele J, Pool-Zobel BL (2003) Human adenoma cells are highly susceptible to the genotoxic action of 4-hydroxy-2-nonenal. Mutat Res 526: 19-32.
  • Schmidt S, Claussen U, Liehr T, Weise A (2005) Evolution versus constitution: differences in chromosomal inversion. Hum Genet 117: 213-219.
  • Schmidt T, Bartels I, Liehr T, Burfeind P, Zoll B, Shoukiera M (2013) A family with an inverted tandem duplication 5q22.1-q23.2. Cytogenet Genome Res 139:65-70.
  • Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K (2014) Branchio-Otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8. Cytogenet Genome Res 142:1-6.
  • Schmitz S, Pinkawa M, Eble MJ, Kriehuber R (2013) Persisting ring chromosomes detected by mFISH in lymphocytes of a cancer patient-a case report. Mutat Res 756:158-164.
  • Schreyer I, Neumann A, Beensen V, Eichhorn KH, Heller A, Claussen U, Liehr T (2005) Dup(13)(q14.2-q14.3): yet another new differential diagnostic aspect for short stature-like phenotype. J Histochem Cytochem 53:365-366.
  • Schulten HJ, Perske C, Thelen P, Polten A, Borst C, Gunawan B, Nagel H (2007) Establishment and characterization of two distinct malignant mesothelioma cell lines with common clonal origin. Cancer Genet Cytogenet 176:35-47.
  • Seidel J, Heller A, Senger G, Starke H, Chudoba I, Kelbova C, Tönnies H, Neitzel H, Haase C, Beensen V, Zintl F, Claussen U, Liehr T (2003) A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behavior disorder characterized comprehensively by molecular cytogenetics-Case report and review of the literature Europ. J. Pedriat  162: 582-588.
  • Selvarajah S, Yoshimoto M, Maire G, Paderova J, Bayani J, Squire JA, Zielenska M (2007) Identification of cryptic microaberrations in osteosarcoma by high-definition oligonucleotide array comparative genomic hybridization. Cancer Genet Cytogenet 179:52-61
  • Seller MJ, Bint S, Kavalier F, Brown RN, Ogilvie CM (2006) Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities. Am J Med Genet A 140A:1102-1107.
  • Serra A, Schackert HK, Mohr B, Weise A, Liehr T, Fitze G (2007) t(11;19)(q21;p12~p13.11) and MECT1-MAML2 fusion transcript expression as a prognostic marker in infantile lung mucoepidermoid carcinoma. J Pediatr Surg 42:E23-29.
  • Sifakis S, Eleftheriades M, Kappou D, Murru R, Konstantinidou A, Orru S, Ziegler M, Liehr T, Manolakos E, Papoulidis I (2014) Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature. Birth Defects Res A Clin Mol Teratol 100:284-293.
  • Sotnik NV, Azizova TV, Osovets SV (2011) [Structural genomic damages in workers of plutonium production]. Radiats Biol Radioecol 51:213-217. Russian.
  • Soysal Y, Balci S, Hekimler K, Liehr T, Ewers E, Schoumans J, Bui TH, Içduygu FM, Kosyakova N, Imirzalioğlu N (2009) Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy. Am J Med Genet A 149A:2782-2787.
  • Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse M, Glaser C, Hagemann M, Yatsenko SA, Liehr T, Horsthemke B, Claussen U, Marahrens Y, Lupski JR, Hansmann I (2006) Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A 140:442-452.
  • Starke H, Raida M, Trifonov V, Clement JH, Loncarevic IF, Heller A, Bleck C, Nietzel A, Rubtsov N, Claussen U, Liehr T (2001) Molecular cytogenetic characterization of an acquired supernumerary minute marker chromosome as sole abnormality in a case clinically diagnosed as Philadelphia negative chronic myelogenous leukaemia. Br J Haematol 113: 435-438.
  • Starke H, Senger G, Kossakiewicz M, Tittelbach H, Rau D, Rubtsov N, Trifonov V, Heller A, Hartmann I, Claussen U, Liehr T. Maternal insertion of 18q11.2-q12.2 in 18p11.3 of the same chromosome analysed by microdissection and multicolour banding (MCB). Prenat Diag 21: 1049-1052.
  • Starke H, Mitulla B, Beensen V, Trifonov V, Rubtsov N, Heller A, Ziegler M, Neumann A, Claussen U, Liehr T (2003) First postnatal case of mosaic del(22)/r(22). Prenat Diagn 23:765-7.
  • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T (2003) Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114:51-67.
  • Struski S, Helias C, Gervais C, Audhuy B, Zamfir A, Herbrecht R, Lessard M (2007) 13q deletions in B-cell lymphoproliferative disorders: frequent association with translocation. Cancer Genet Cytogenet 174:151-160.
  • Stumm M, Musebeck J, Tonnies H, Volleth M, Lemke J, Chudoba I, Wieacker P (2002) Partial trisomy 9p12p21.3 with a normal phenotype. J Med Genet 39: 141-144.
  • Thienpont B, Gewillig M, Fryns JP, Devriendt K, Vermeesch J (2006) Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies. Cytogenet Genome Res 114:338-341.
  • Tjia WM, Hu L, Zhang MY, Guan XY (2007) Characterization of rearrangements involving 4q, 13q and 16q in hepatocellular carcinoma cell lines using region-specific multiplex-FISH probes. Cancer Lett 250:92-99
  • Tönnies H, Stumm M, Wegner R-D, Chudoba I, Kalscheur V, Neitzel H (2001) Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostic. Cytogenet Cell Genet 93: 188-194.
  • Tönnies H (2005) Molecular cytogenetics in molecular diagnostics. In Molecular Diagnostics, Ed. Patrinos and Ansorge: 139-157.
  • Tönnies H, Gerlach A, Heineking B, Starke H, Neitzel H, Neumann LM (2006) Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13. Cytogenet Genome Res 114:325-329.
  • Trappe R, Bohm D, Kohlhase J, Weise A, Liehr T, Essers G, Meins M, Zoll B, Bartels I, Burfeind P (2002) A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis. Cytogenet Genome Res 98: 1-8.
  • Trifonov V, Seidel J, Starke H, Martina P, Beensen V, Ziegler M, Hartmann I, Heller A, Nietzel A, Claussen U, Liehr T (2003) Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter. Prenat Diagn 23: 427-430.
  • Trimborn M, Liehr T, Belitz B, Pfeiffer L, Varon R, Neitzel H, Tönnies H (2005) Prenatal diagnosis and molecular cytogenetic characterization of an unusual complex structural rearrangement in a pregnancy following intracytoplasmic sperm injection (ICSI). J Histochem Cytochem 53:351-354
  • Tsarouha H, Kyriazoglou AI, Ribeiro FR, Teixeira MR, Agnantis N, Pandis N (2006) Chromosome analysis and molecular cytogenetic investigations of an epithelioid hemangioendothelioma. Cancer Genet Cytogenet 169:164-168.
  • Tzschach A, Ramel C, Kron A, Seipel B, Wüster C, Cordes U, Liehr T, Hoeltzenbein M, Menzel C, Ropers HH, Ullmann R, Kalscheuer V, Decker J, Steinberger D (2009) Hypergonadotropic hypogonadism in a patient with inv ins (2;4). Int J Androl 32:226-230.
  • Utine GE, Aktas D, Alanay Y, Gücer S, Tuncbilek E, Mrasek K, Liehr T (2007) Distal partial trisomy 1q: report of two cases and a review of the literature. Prenat Diagn 27:865-871.
  • Vičić A, Zudenigo D, Korać P, Liehr T, Stipoljev F (2013) Prenatally detected interstitial deletion 13q12.3-q22 in a fetus with a cystic hygroma. Gene 531: 90-91.
  • Vlckova M, Trkova M, Zemanova Z, Hancarova M, Novotna D, Raskova D, Puchmajerova A, Drabova J, Zmitkova Z, Tan Y, Sedlacek Z (2012) Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing. Cytogenet Genome Res 136:15-20.
  • Volleth M, Stumm M, Kalscheuer VM, Reschke K, Liehr T, Wieacker P (2003) Premature ovarian failure in a woman with an unusual pseudoisodicenric X chromosome. Ger J Obstet Gynecol 63:1054-1057
  • Vorsanova SG, Iourov IV, Voinova-Ulas VV, Weise A, Monakhov VV, Kolotii AD, Soloviev IV, Novikov PV, Liehr T, Yurov YB (2008) Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Mol Cytogenet 1(1):13.
  • Vorsanova SG, Yurov YB, Iourov IY (2010) Human interphase chromosomes: a review of available molecular cytogenetic technologies. Mol Cytogenet 11;3:1.
  • Vukovic B, Beheshti B, Park P, Lim G, Bayani J, Zielenska M, Squire JA (2007) Correlating breakage-fusion-bridge events with the overall chromosomal instability and in vitro karyotype evolution in prostate cancer. Cytogenet Genome Res 116:1-11.
  • Weise A, Starke H, Heller A, Claussen U, Liehr T (2002) Evidence for interphase DNA decondensation transverse to the chromosome axis: A multicolor banding analysis. Int J Mol Med, 9: 359-361.
  • Weise A, Starke H, Heller A, Tönnies H, Volleth M, Stumm M, Senger G, Nietzel A, Claussen U, Liehr T (2002) Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet 39: 434-439.
  • Weise A, Heller A, Starke H, Mrasek K, Kuechler A, Pool-Zobel BL, Claussen U, Liehr T (2003) Multitude multicolor chromosome banding (mMCB) - a comprehensive one-step multicolor FISH banding method. Cytogenet Genome Res 103:34-9.
  • Weise A, Starke H, Mrasek K, Claussen U, Liehr T (2005) New insights into the evolution of chromosome 1. Cytogenet Genome Res 108: 217-222.
  • Weise A, Mrasek K, Fickelscher I, Claussen U, Cheung SW, Cai WW, Liehr T, Kosyakova N (2008) Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem 56:487-493.
  • Yurov YB, Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, Kutsev SI, Pellestor F, Beresheva AK, Demidova IA, Kravets VS, Monakhov VV, Soloviev IV (2007) Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS ONE 2:e558.
  • Yurov YB, Iourov IY, Vorsanova SG, Demidova IA, Kravetz VS, Beresheva AK, Kolotii AD, Monakchov VV, Uranova NA, Vostrikov VM, Soloviev IV, Liehr T (2008) The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1. Schizophr Res 98:139-147.
  • Yurov YB, Vorsanova SG, Iourov IY (2013) Human Interphase Chromosomes - Biomedical Aspects. Springer.
  • Zahnreich S, Krunic D, Melnikova L, Szejka A, Drossel B, Sabatier L, Durante M, Ritter S, Fournier C (2011) Duplicated chromosomal fragments stabilize shortened telomeres in normal human IMR-90 cells before transition to senescence. J Cell Physiol. 2011 Jul 5. doi: 10.1002/jcp.22921. [Epub ahead of print]
  • Zahnreich S, Krunic D, Melnikova L, Szejka A, Drossel B, Sabatier L, Durante M, Ritter S, Fournier C (2012) Duplicated chromosomal fragments stabilize shortened telomeres in normal human IMR-90 cells before transition to senescence. J Cell Physiol 227:1932-1940.
  • Zivkovic T, Chudoba I, Bokemeyer C, Dierlamm J (2006) Multicolour banding provides a detailed characterisation of structural abnormalities of chromosome 1 in Burkitt lymphoma. Br J Haematol 132:2.
  • Zuna J, Zaliova M, Muzikova K, Meyer C, Lizcova L, Zemanova Z, Brezinova J, Votava F, Marschalek R, Stary J, Trka J (2010) Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: poor prognosis and prenatal origin. Genes Chromosomes Cancer 49:873-884.

Mouse mcb

  • Benedek K, Chudoba I, Klein G, Wiener F, Mai S (2004) Rearrangements of the telomeric region of mouse chromosome 11 in Pre-B ABL/MYC cells revealed by mBANDing, spectral karyotyping, and fluorescence in-situ hybridization with a subtelomeric probe. Chr Res 12: 777-785.
  • Kosyakova N, Trifonov V, Romanenko S, Mkrtchyan H, Graphodatsky A, Liehr T. Murine multicolor banding. Tsitologiya 2013, 55:259-260.
  • Kosyakova N, Hamid AB, Chaveerach A, Pinthong K, Siripiyasing P, Supiwong W, Romanenko S, Trifonov V, Fan X (2013) Generation of multicolor banding probes for chromosomes of different species. Molecular Cytogenetics 6:6.
  • Leibiger C, Kosyakova N, Mkrtchyan H, Glei M, Trifonov V, Liehr T (2013) First molecular cytogenetic high resolution characterization of the NIH 3T3 cell line by murine multicolor banding. J Histochem Cytochem 61: 306-312.
  • Schmälter AK, Kuzyk A, Righolt CH, Neusser M, Steinlein OK, Müller S, Mai S (2014) Distinct nuclear orientation patterns for mouse chromosome 11 in normal B lymphocytes. BMC Cell Biol 15:22.
  • Trifonov V, Karst C, Claussen U, Mrasek K, Michel S, Avner P, Liehr T (2005) Microdissection-derived murine mcb probes from somatic cell hybrids. J Histochem Cytochem 53: 791-792.
  • Karst C, Trifonov V, Romanenko SA, Claussen U, Mrasek K, Michel S, Avner P, Liehr T (2006) Molecular cytogenetic characterization of the mouse cell line WMP2 by spectral karyotyping and multicolor banding applying murine probes. Int J Mol Med 17:209-213.
  • Trifonov VA, Kosyakova N, Romanenko SA, Graphodatsky AS, Liehr T  (2010) New insights into the karyotypic evolution in muroid rodents revealed by multicolor banding applying murine probes. Chr Res 18:265-275

Cross-species color banding (Rx-FISH)

The probes initially used are flow sorted chromosomes of two gibbon species (Hylobates concolor and H. syndactylus), which show both highly rearranged karyotypes with respect to the human one. Using this probe set the chromosomes #15, #18, #21, #22 and the sex chromosomes do not differentiate in segments [Müller et al., 1997]. Thus, chromosomes of another gibbon species (H. leucogenys) have been flow sorted, split in three portions, labeled with three different fluorochromes and the resulting probe set has been called Rx-FISH [Müller et al., 1998]. A resolution of 160 bands per haploid karyotype can be achieved, when combining the Rx-FISH probe set with 110 human-hamster somatic cell hybrids mentioned before [bar code section], split in 2 different pools and labeled with 2 additional fluorochromes [Müller and Wienberg, 2000].

  • Aamot HV, Micci F, Holte H, Delabie J, Heim S (2005) G-banding and molecular cytogenetic analyses of marginal zone lymphoma. Br J Haematol 130:890-901
  • Angle B, Yen F, Hersh JH, Gowans G, Barch M (2002) Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes. Am J Med Genet 111: 307-312.
  • Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L, O'Brien PC, Ferguson-Smith MA, Ropers HH, Tommerup N, Kalscheuer VM, Sargan DR (2002) A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J Med Genet 39:391-399.
  • Corzo C, Petzold M, Mayol X, Espinet B, Salido M, Serrano S, Real FX, Sole F (2003) RxFISH karyotype and MYC amplification in the HT-29 colon adenocarcinoma cell line. Genes Chromosomes Cancer 36: 319-320.
  • de Oliveira EH, Neusser M, Pieczarka JC, Nagamachi C, Sbalqueiro IJ, Muller S (2005) Phylogenetic inferences of Atelinae (Platyrrhini) based on multi-directional chromosome painting in Brachyteles arachnoides, Ateles paniscus paniscus and Ateles b. marginatus. Cytogenet Genome Res 108: 183-190.
  • Durante M, George K, Cucinotta FA (2006) Chromosomes lacking telomeres are present in the progeny of human lymphocytes exposed to heavy ions. Radiat Res 165:51-58
  • Espinet B, Salido M, Pujol RM, Florensa L, Gallardo F, Domingo A, Servitje O, Estrach T, Garcìa-Muret P, Woessner S, Serrano S, Solé F (2004) Genetic characterization of Sézary's syndrome by conventional cytogenetics and cross-species color banding fluorescent in situhybridization. Haematologica 89:165-173.
  • Ferguson-Smith MA, Yang F, Rens W, O'Brien PC (2005) The impact of chromosome sorting and painting on the comparative analysis of primate genomes. Cytogenet Genome Res 108: 112-121.
  • Harrison CJ, Gibbons B, Yang F, Butler T, Cheung KL, Kearney L, Dirscherl L, Bray-Ward P, Gregson M, Ferguson-Smith M (2000) Multiplex fluorescence in situ hybridization and cross species color banding of a case of chronic myeloid leukemia in blastic crisis with a complex Philadelphia translocation. Cancer Genet Cytogenet 116: 105-110.
  • Harrison CJ, Yang F, Butler T, Cheung KL, O'Brien PC, Hennessy BJ, Prentice HG, Ferguson-Smith M (2001) Cross-species color banding in ten cases of myeloid malignancies with complex karyotypes. Genes Chromosomes Cancer 30: 15-24.
  • Hills LV, Nouri S, Slater HR (2003) Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes: a study using cross-species colour segmenting (RxFISH). Chromosome Res 11:359-363
  • Hwang HJ, Kim GJ, Lee GB, Oh JT, Chun YH, Park SH (2003) A comprehensive karyotypic analysis on Korean hepatocellular carcinoma cell lines by cross-species color banding and comparative genomic hybridization. Cancer Genet Cytogenet 141: 128-137.
  • Kim DG, Park SY, You KR, Lee GB, Kim H, Moon WS, Chun YH, Park SH (2001) Establishment and characterization of chromosomal aberrations in human cholangiocarcinoma cell lines by cross-species color banding. Genes Chromosomes Cancer 30: 48-56.
  • Kim GJ, Park SY, Kim H, Chun YH, Park SH (2001) Chromosomal aberrations in neuroblastoma cell lines identified by cross species color banding and chromosome painting. Cancer Genet Cytogenet 129: 10-16.
  • Koo SH, Kwon KC, Park JW, Lee YE, Kim JW (2000) Characterization of chromosomal breakpoints in an ALL patient using cross-species color banding. Cancer Genet Cytogenet 119: 118-120.
  • Leite RP, Souto M, Carvalho B, Martins M, Chaves R, Morais A, Guedes-Pinto H, Wienberg J, Ribeiro E (2006) Identification, characterization and clinical implications of two markers detected at prenatal diagnosis. Prenat Diagn 26:920-924.
  • Micci F, Teixeira MR, Dietrich CU, Saeter G, Bjerkehagen B, Heim S (1999) Combined RxFISH/G-banding allows refined karyotyping of solid tumors. Hum Genet 104: 370-375.
  • Micci F, Teixeira MR, Heim S (2001) Complete cytogenetic characterization of the human breast cancer cell line MA11 combining G-banding, comparative genomic hybridization, multicolor fluorescence in situ hybridization, RxFISH, and chromosome-specific painting. Cancer Genet Cytogenet. 131: 25-30.
  • Micci F, Walter CU, Teixeira MR, Panagopoulos I, Bjerkehagen B, Saeter G, Heim S (2003) Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17). Cancer Genet Cytogenet 144: 119-124.
  • Müller S, Neusser M, Wienberg J (2002) Towards unlimited colors for fluorescence in-situ hybridization (FISH). Chromosome Res 10: 223-232.
  • Müller S, O'Brien PC, Ferguson-Smith MA, Wienberg J (1998) Cross-species colour segmenting: a novel tool in human karyotype analysis. Cytometry 33: 445-452.
  • Müller S, Wienberg J (2000) Advances in the development of chromosome bar codes: Integration of M-FISH and Rx-FISH technology. medgen 12: 474-477 (German).
  • Müller S, Wienberg J (2001) "Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype. Hum Genet 109: 85-94.
  • Neusser M, Munch M, Anzenberger G, Muller S (2005) Investigation of marmoset hybrids (Cebuella pygmaea x Callithrix jacchus) and related Callitrichinae (Platyrrhini) by cross-species chromosome painting and comparative genomic hybridization. Cytogenet Genome Res 108: 191-196.
  • Park S-Y, Choi H-C, Chun Y-H, Kim H, Park S-H (2001) Characterization of chromosomal aberrations in lung cancer cell lines by cross-species color banding. Cancer Genet Cytogenet 124: 62-70.
  • Pedrazzini E, Mamaev N, Yakovleva T, Sukhikh T, Salido M, Solé F, Prat E, Camps J, Miró R, Slavutsky I (2003) Genomic rearrangements involving rDNA and centromeric heterochromatin in vulvar epidermoid carcinoma cell line A-431. Cancer Genet Cytogenet 143:50-58
  • Petek E, Wagner K, Steiner H, Schaffer H, Kroisel PM (2000) Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation. Prenat Diagn 20: 349-352.
  • Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K (2001) Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 68: 848-858.
  • Salido M, Solé F, Espinet B, Zamora L, Woessner S, Florensa L (2001) New t(11;12)(q12;q11) characetrized by RxFISH in a patient with T-cell large granular lymphocyte leukemia. Cancer Genet Cytogenet 125: 70-73.
  • Sanchez-Izquierdo D, Siebert R, Harder L, Marugan I, Gozzetti A, Price HP, Gesk S, Hernandez-Rivas JM, Benet I, Sole F, Sonoki T, LeBeau MM, Schlegelberger B, Dyer MJ, Garcia-Conde J, Martinez-Climent JA (2001) Detection of translocations affecting the BCL6 locus in B cell non-Hodgkin's lymphoma by interphase fluorescence in situ hybridization. Leukemia. 15: 1475-1484.
  • Stanyon R, Bruening R, Stone G, Shearin A, Bigoni F (2005) Reciprocal painting between humans, De Brazza's and patas monkeys reveals a major bifurcation in the Cercopithecini phylogenetic tree. Cytogenet Genome Res 108: 175-182.
  • Teixeira MR, Micci F, Dietrich CU, Heim S (1999) Cross-species color banding characterization of chromosomal rearrangements in leukemias with incomplete G-band karyotypes. Genes Chromosomes Cancer 26: 13-19.
  • Teixeira MR, Micci F, Dietrich CU, Heim S (2000) Detailed genome-wide screening for inter- and intrachromosomal abnormalities by sequential G-banding and RxFISH color banding of the same metaphase cells. Cancer Genet Cytogenet 119: 94-101.
  • Teixeira MR (2002) Combined classical and molecular cytogenetic analysis of cancer. Eur J Cancer 38: 1580-1584.
  • Wienberg J (2005) Fluorescence in situ hybridization to chromosomes as a tool to understand human and primate genome evolution. Cytogenet Genome Res 108:139-160.
  • Xue YB, Song X (2008) [Progresses on the methods of tumor chromosome aberration analysis.] Yi Chuan 30:1529-1535. Chinese.
  • Zhao L, Hayes K, Glassman A (2000) Enhanced detection of chromosomal abnormalities with the use of RxFISH multicolor banding technique. Cancer Genet Cytogenet 118: 108-111.
  • Zitzelsberger H, O'Brien B, Weier H-U (2002) Multicolor FISH techniques for the detection of inter- and intrachromosomal rearrangements. In: FISH-Technology, Springer-labmanual, Springer, Berlin, pp 408-424, ISBN: 3-540-67276-1.

 


Combination of human whole chromosome painting probes and human chromosome-arm specific probes

  • Bezrookove V, Smits R, Moeslein G, Fodde R, Tanke HJ, Raap AK, Darroudi F (2003) Premature chromosome condensation revisited: A novel chemical approach permits efficient cytogenetic analysis of cancers. Genes Chromosomes Cancer 38:177-186.
  • Bezrookove V, van Zelderen-Bhola SL, Brink A, Szuhai K, Raap AK, Barge R, Beverstook CG, Rosenberg C (2004) A novel t(6;14)(q25~q27;q32) in acute myelocytic leukemia involves the BCL11B gene. Cancer Genet Cytogenet 149: 72-76.
  • Brink AA, Wiegant JC, Szuhai K, Tanke HJ, Kenter GG, Fleuren GJ, Schuuring E, Raap AK (2002) Simultaneous mapping of human papillomavirus integration sites and molecular karyotyping in short-term cultures of cervical carcinomas by using 49-color combined binary ratio labeling fluorescence in situ hybridization.Cancer Genet Cytogenet 134: 145-150.
  • Laitinen S, Karhu R, Sawyers CL, Vessella RL, Visakorpi T (2002) Chromosomal aberrations in prostate cancer xenografts detected by comparative genomic hybridization. Genes Chromosomes Cancer 35: 66-73.
  • Langer S, Fauth C, Rocchi M, Murken J, Speicher MR (2001) AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum Genet 109: 152-158.
  • Karhu R, Ahlstedt-Soini M, Bittner M, Meltzer P, Trent JM, Isola JJ (2001) Chromosome arm-specific multicolor FISH. Genes Chromosomes Cancer 30: 105-109.
  • Raap AK, Tanke HJ (2006) COmbined Binary RAtio fluorescence in situ hybridiziation (COBRA-FISH): development and applications. Cytogenet Genome Res 114:222-226.
  • Sallinen SL, Sallinen P, Ahlstedt-Soini M, Haapasalo H, Helin H, Isola J, Karhu R (2003) Arm-specific multicolor fluorescence in situ hybridization reveals widespread chromosomal instability in glioma cell lines. Cancer Genet Cytogenet 144: 52-60.
  • Speicher MR, Gwyn Ballard S, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12: 368-375.
  • Szuhai K, Ijszenga M, Tanke HJ, Rosenberg C, Hogendoorn PC (2006) Molecular cytogenetic characterization of four previously established and two newly established Ewing sarcoma cell lines. Cancer Genet Cytogenet 166:173-179.
  • Wiegant J, Bezrookove V, Rosenberg C, Tanke HJ, Raap AK, Zhang H, Bittner M, Trent JM, Meltzer P (2000) Differentially painting human chromosome arms with combined binary ratio-labeling fluorescence in situ hybridization. Genome Res 10: 861-865.

Combination of mFISH approaches using human wcp probes and banding

- combination of mFISH using human whole chromosome painting probes and the inverted DAPI-banding pattern

e.g.

  • Bayani J, Pandita A, Squire JA (2000) Sequential G-banding, SKYand FISH provides a refined identification of translocation breakpoints and complex chromosomal rearrangements. http://www.biomednet.com/db/tto 01864
  • Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T (1996) Multicolor spectral karyotyping of human chromosomes. Science, 273:494-497.
  • + see many papers dealing with mFISH using wcp probes

- DAPI/chromomycin A3 double-staining to achieve a R-banding like pattern, analyzable by a computer based image analysis program, which can automatically identify unknown chromosomes

  • Coullin P, Philippe C, Ravise N, Bernheim A (1999) Simultaneous fluorescence in-situ hybridization (FISH) an R-banding by primed in-situ labelling (PRINS). Chromosome Res 7: 241-242.

- IPM-FISH: The resulting painting probes show a R-band like pattern concurrent to 24 M-FISH colors

  • Aurich-Costa J, Vannier A, Gregoire E, Nowak F, Cherif D (2001) IPM-FISH, a new M-FISH approach using IRS-PCR painting probes: application to the analysis of seven human prostate cell lines. Genes Chromosomes Cancer 30: 143-160.

Chromosome bar coding (CBC) in human, mice and other animals

Each chromosome is identified by a specific signal pattern produced by region-specific YAC clones. As this produces a limited number of bars on each chromosome this pattern has been called “chromosome bar code”.

- CBC in human

  • Florijn RJ, Bonden LA, Vrolijk H, Wiegant J, Vaandrager JW, Baas F, den Dunnen JT, Tanke HJ, van Ommen GJ, Raap AK (1995) High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes. Hum Mol Genet. 4: 831-836.
  • Gisselsson D, Hoglund M, Mertens F, Johansson B, Dal Cin P, Van den Berghe H, Earnshaw WC, Mitelman F, Mandahl N (1999) The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells. Hum Genet 104: 315-325.
  • Gisselsson D, Mandahl N, Palsson E, Gorunova L, Hoglund M (2000) Locus-specific multifluor FISH analysis allows physical characterization of complex chromosome abnormalities in neoplasia. Genes Chromosomes Cancer 28: 347-352.
  • Gisselsson D, Palsson E, Hoglund M, Domanski H, Mertens F, Pandis N, Sciot R, Dal Cin P, Bridge JA, Mandahl N (2002) Differentially amplified chromosome 12 sequences in low- and high-grade osteosarcoma. Genes Chromosomes Cancer 33: 133-140.
  • Gribble SM, Reid AG, Roberts I, Grace C, Green AR, Nacheva EP (2003) Genomic imbalances in CML blast crisis: 8q24.12-q24.13 segment identified as a common region of over-representation. Genes Chromosomes Cancer 37: 346-358.
  • Henegariu O, Vance GH, Heiber D, Pera M, Heerema NA (1998) Triple-color FISH analysis of 12p amplification in testicular germ-cell tumors using 12p band-specific painting probes. J Mol Med 76: 648-655.
  • Lengauer C, Green ED, Cremer T (1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13: 826-828.
  • Lengauer C, Speicher MR, Popp S, Jauch A, Taniwaki M, Nagaraja R, Riethman HC, Donis-Keller H, D'Urso M, Schlessinger D, Cremer T (1993) Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes. Hum Mol Genet 2: 505-512.
  • Lichter P, Tang CJ, Call K, Hermanson G, Evans GA, Housman D, Ward DC (1990) High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247: 64-69.
  • Müller S, Wienberg J (2006) Multicolor chromosome bar codes. Cytogenet Genome Res 114:245-249.  
  • Nogami M, Nogami O, Kagotani K, Okumura M, Taguchi H, Ikemura T, Okumura K (2000) Intranuclear arrangement of human chromosome 12 correlates to large-scale replication domains. Chromosoma 108: 514-522.
  • Ried T, Baldini A, Rand TC, Ward DC (1992) Simultaneous visualization of seven different DNA probes by in situ hybridization using combinatorial fluorescence and digital imaging microscopy. Proc Natl Acad Sci U S A. 89: 1388-1392.
  • Saracoglu K, Brown J, Kearney L, Uhrig S, Azofeifa J, Fauth C, Speicher MR, Eils R (2001) New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization. Cytometry 44: 7-15.
  • Schiffer C, Popp S, Moshir S, Rupprath G, Dungfelder E, Hager HD, Tariverdian G, Jauch A (2003) Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations. Clin Dysmorphol.12: 129-131.
  • Schmidt H, Uhrig S, Lederer G, Murken J, Speicher MR, Schuffenhauer S (2000) Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry. J Med Genet 37: 804-807.
  • Speicher MR, Petersen S, Uhrig S, Jentsch I, Fauth C, Eils R, Petersen I (2000) Analysis of chromosomal alterations in non-small cell lung cancer by multiplex-FISH, comparative genomic hybridization, and multicolor bar coding. Lab Invest 80: 1031-1041.
  • Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Müller-Navia J, Cremer T, Murken J, Speicher MR (1999) Multiplex-FISH for pre- and postnatal diagnostic applications. Am J Hum Genet 65: 448-462.
  • Venter DJ, Ramus SJ, Hammet FM, de Silva M, Hutchins AM, Petrovic V, Price G, Armes JE (2005) Complex CGH alterations on chromosome arm 8p at candidate tumor suppressor gene loci in breast cancer cell lines. Cancer Genet Cytogenet 160:134-140.

- Another CBC in human is based on 110 human-hamster somatic cell hybrids

  • Antonacci R, Marzella R, Finelli P, Lonoce A, Forabosco A, Archidiacono N, Rocchi M (1995) A panel of subchromosomal painting libraries representing over 300 regions of the human genome. Cytogenet Cell Genet 68: 25-32.
  • Müller S, Rocchi M, Ferguson-Smith MA, Wienberg J (1997) Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization. Hum Genet 100: 271-278.
  • Müller S, Wienberg J (2000) Advances in the development of chromosome bar codes: Integration of M-FISH and Rx-FISH technology. medgen 12: 474-477 (German).
  • Müller S, Wienberg J (2001) "Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype. Hum Genet 109: 85-94.
  • Müller S, Eder V, Wienberg J (2004) A nonredundant multicolor bar code as a screening tool for rearrangements in neoplasia. Genes Chromosomes Cancer. 2004 Jan;39(1):59-70.
  • Wienberg J, Müller S (2002) Chromosome bar codes: Defining karyotypes with molecular tags by multi color FISH. ECA newsletter 9: 3-8
  • Wienberg J, Stanyon R (1997) Comparative painting of mammalian chromosomes. Curr Opin Genet Dev 7: 784-791.

- CBC in mice (one color FISH!!)

  • Liechty MC, Carpio CM, Aytay S, Clase AC, Puschus KL, Sims KR, Davis LM, Hozier JC (1999) Hybridization-based karyotyping of mouse chromosomes: hybridization-bands. Cytogenet Cell Genet 86: 34-38.
  • Liechty MC, Clase AC, Puschus KL, Aytay S, Carpio CM, Hall BK, Hozier JC (2000) Mouse linkage cytogenetics (L-C) probes. Cytogenet Cell Genet 88: 163-167.
  • Mongelard F, Poras I, Usson Y, Batteux B, Robert-Nicoud M, Avner P, Vourch C. (1996) A mouse chromosome-specific YAC probe collection for in situ hybridization. Genomics 38: 432-434. (one probe per chromosome)

- CBC in horse

  • Brooks SA, Lear TL, Adelson DL, Bailey E (2007) A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenet Genome Res 119:225-230.

- CBC in dog

  • Breen M, Modiano JF (2008) Evolutionarily conserved cytogenetic changes in hematological malignancies of dogs and humans--man and his best friend share more than companionship. Chromosome Res 16:145-154.

Spectral color banding (SCAN)

This technique is based on band specific microdissection libraries and available for chromosomes 3 and 10 now.

  • Kakazu N, Ashihara E, Hada S, Ueda T, Sasaki H, Terada M, See TA (2001) Development of spectral colour banding in cytogenetic analysis. Lancet 357: 529-530.
  • Kakazu N, Bar-Am I, Hada S, Ago H, Abe T (2003) A new chromosome banding technique, spectral color banding (SCAN), for full characterization of chromosomal abnormalities. Genes Chromosomes Cancer 37: 412-416
  • Kakazu N, Abe T (2006) Multicolor banding technique, spectral color banding (SCAN): new development and applications. Cytogenet Genome Res 114:250-256.