mFISH using single copy probes

Sub-telomeric probes

In up to 6% of patients with iodiopathic mental retardation cryptic subtelomeric translocations or deletions can be detected. The integration of subtelomeric probes in M-FISH has been suggested, because subtelomeric sequences are often underrepresented in whole chromosome painting probes. 

• Brown J, Horsley SW, Jung C, Saracoglu K, Janssen B, Brough M, Daschner M, Beedgen B, Kerkhoffs G, Eils R, Harris PC, Jauch A, Kearney L (2000) Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL. Eur J Hum Genet 8: 903-910.
  

• Brown J, Saracoglu K, Uhrig S, Speicher MR, Eils R, Kearney L (2001). Subtelomeric chromosome rearrangements are detected using 12-colour multiplex FISH assay (M-TEL). Nature Med 7(4), 5-9
  

• Codina-Pascual M, Kraus J, Speicher MR, Oliver-Bonet M, Murcia V, Sarquella J, Egozcue J, Navarro J, Benet J (2004) Characterization of all human male synaptonemal complexes by subtelomere multiplex-FISH. Cytogenet Genome Res 107: 18-21.
  

• Engels H, Ehrbrecht A, Zahn S, Bosse K, Vrolijk H, White S, Kalscheuer V, Hoovers JM, Schwanitz G, Propping P, Tanke HJ, Wiegant J, Raap AK (2003) Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. Eur J Hum Genet. 11: 643-651.
  

• Granzow M, Popp S, Keller M, Holtgreve-Grez H, Brough M, Schoell B, Rauterberg-Ruland I, Hager HD, Tariverdian G, Jauch A (2000) Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals. Hum Genet 107: 51-57.
  

• Henegariu O, Artan S, Greally JM, Chen X-N, Korenberg JR, Vance GH, Stubbs L, Bray-Ward Pand, Ward DC (2001) Cryptic translocation identification in human and mouse using several telomeric multiplex FISH (TM-FISH) strategies. Lab Invest 81: 483-491.
  

• Henegariu O, Dunai J, Chen XN, Korenberg JR, Ward DC, Greally JM (2001) A triple color FISH technique for mouse chromosome identification. Mamm Genome 12: 462-465.
  

• Pettenati MJ, Von Kap-Herr C, Jackle B, Bobby P, Mowrey, Schwartz S, Rao, PN, Rosnes J (2002) Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes. Prenat Diag 22: 193-197.
  

• Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A (2002) Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum Genet 111: 31-39.
  

• 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.
  

• Stewenius Y, Tanke HJ, Wiegant J, Gisselsson D (2006) Cryptic terminal chromosome rearrangements in colorectal carcinoma cell lines detected by subtelomeric FISH analysis. Cytogenet Genome Res 114:257-262.
  

• Pettenati MJ, Von Kap-Herr C, Jackle B, Bobby P, Mowrey, Schwartz S, Rao, PN, Rosnes J (2002) Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes. Prenat Diag 22: 193-197.
  

• Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A (2002) Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum Genet 111: 31-39.
  

• Stewenius Y, Tanke HJ, Wiegant J, Gisselsson D (2006) Cryptic terminal chromosome rearrangements in colorectal carcinoma cell lines detected by subtelomeric FISH analysis. Cytogenet Genome Res 114:257-262.
  

• Rooms L, Reyniers E, Kooy RF( 2005) Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. Hum Mutat 25 :513-524.
  

 “MultiFISH” assay

Simultaneous detection of microdeletion and contiguous gene-deletion syndromes Prader-Willi/Angelman- (15q11-13), Williams-Beuren- (7q11.23), Smith-Magenis- (17p11.2) and DiGeorge/velocardiofacial (22q11.2) syndromes . 

• Ligon AH, Beaudet AL, Shaffer LG (1997) Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. Am J Hum Genet 61: 51-59.
  

 mFISH in amniocytes and for PGD

• Cowans NJ, Spencer K (2007) Is there an association between maternal ABO and rhesus blood groups and the first-trimester serum markers free beta-hCG and PAPP-A used for the detection of fetal aneuploidy? Prenat Diagn 27:64-67.
  

• Eiben B, Trawicki W, Hammans W, Goebel R, Pruggmayer M, Epplen JT (1999) Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of >3,000 cases. Fetal Diagn Ther 14: 193-197.
  

• Fung J, Weier HU, Goldberg JD, Pedersen RA (2000) Multilocus genetic analysis of single interphase cells by spectral imaging. Hum Genet 107: 615-622.
  

• Fung J, Weier H-U G, Pedersen RA, Zitzelsberger HF (2002) Spectral analysis of metaphase and interphase cells. In: FISH-Technology, Springer-labmanual, Springer, Berlin, pp 363-387, ISBN: 3-540-67276-1.
  

• Harper JC, Wells D (1999) Recent advances and future developments in PGD. Prenat Diagn 19: 1193-1199.
  

• Liehr T, Schreyer I, Neumann A, Beensen V, Ziegler M, Hartmann I, Starke H, Heller A, Nietzel A, Claussen U (2001) Two more pitfalls of rapid prenatal diagnostics using the interphase nuceli. Prenat Diagn 22: 497-499.
  

• Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F (2002) Centromere-specific multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis. In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives. The Karolinum Press, Prag, pp 293-300, ISBN: 80-246-0397-7.
  

• Liehr T, Beensen V, Hauschild R, Ziegler M, Hartmann I, Starke H, Heller A, Christine K, Matthias S, Wolfgang R, Martin H, Claussen U (2001) Pitfalls of rapid prenatal diagnostics in the interphase nucelus. Prenat Diagn 21: 419-421.Magli MC, Gianaroli L, Munne S, Ferraretti AP (1998) Incidence of chromosomal abnormalities from a morphologically normal cohort of embryos in poor-prognosis patients. J Assist Reprod Genet 15: 297-301.
  

• Munné S, Sepulveda S, Balmaceda J, Fernandez E, Fabres C, Mackenna A, Lopez T, Crosby JA, Zegers-Hochschild F (2001) Selection of the most common chromosome abnormalities in oocytes prior to ICSI. Prenat Diagn 20: 582-586.
  

• Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic I, Beensen V, Claussen U, Liehr T (2001) A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108: 199-204.
  

• Rodriguez de Alba M, Gonzales-Gonzales C, Palmino P, Lorda-Sanchez I, Trujillo MJ, Garcia-Hoyos M, Ayuso C, Diaz-Recasens J, Ramos C (2002) Three-year experience in the diagnosis on fetal cells in maternal blood. In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives. The Karolinum Press, Prag, pp 109-120, ISBN: 80-246-0397-7.
  

• Thilaganathan B, Sairam S, Ballard T, Peterson C, Meredith R (2000) Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation. BJOG 107: 262-266.
  

• Verlinsky Y, Kuliev A (2000) An Atlas of Preimplantation Genetic Diagnosis: An illustrated textbook and reference for clinicians (The Encyclopedia of Visual Medicine Series), Parthenon Pub Group.
  

• Weier JF, Ferlatte C, Baumgartner A, Jung CJ, Nguyen HN, Chu LW, Pedersen RA, Fisher SJ, Weier HU (2006) Molecular cytogenetic studies towards the full karyotype analysis of human blastocysts and cytotrophoblasts. Cytogenet Genome Res 114:302-311.
  

• Wilton L (2002) Preimplantation genetic diagnostis for aneuploidy screening in early human embryos: a review. Prenat Diagn 22: 512-518.
  

multi-target mFISH for tumor cytogenetics

• Blandin AT, Mühlematter D, Bougeon S, Gogniat C, Porter S, Beyer V, Parlier V, Beckmann JS, van Melle G, Jotterand M (2008) Automated four-color interphase fluorescence in situ hybridization approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid acute lymphoblastic leukemia. Cancer Genet Cytogenet 186:69-77.
  

• Caraway NP, Thomas E, Khanna A, Payne L, Zhang HZ, Lin E, Keating MJ, Katz RL (2008) Chromosomal abnormalities detected by multicolor fluorescence in situ hybridization in fine-needle aspirates from patients with small lymphocytic lymphoma are useful for predicting survival. Cancer 114:315-322.
  

• De Melo VA, Milojkovic D, Marin D, Apperley JF, Nacheva EP, Reid AG (2008) Deletions adjacent to BCR and ABL1 breakpoints occur in a substantial minority of chronic myeloid leukemia patients with masked Philadelphia rearrangements. Cancer Genet Cytogenet 182:111-115
  

• Horsley SW, Colman S, McKinley M, Bateman CM, Jenney M, Chaplin T, Young BD, Greaves M, Kearney L (2008) Genetic lesions in a preleukemic aplasia phase in a child with acute lymphoblastic leukemia. Genes Chromosomes Cancer 47:333-340.
  

• Kang JU, Koo SH, Jeong TE, Kwon KC, Park JW, Jeon CH (2006) Multitarget fluorescence in situ hybridization and melanoma antigen genes analysis in primary bladder carcinoma. Cancer Genet Cytogenet 164: 32-38
  

• Jin C, Jin Y, Gisselsson D, Wennerberg J, Wah TS, Stromback B, Kwong YL, Mertens F (2006) Molecular cytogenetic characterization of the 11q13 amplicon in head and neck squamous cell carcinoma. Cytogenet Genome Res 115:99-106
  

• Liou LS, Pettay JD, Tubbs RR (2002) Interphase fluorescence in-situ hybridization in the diagnosis of bladder cancer. Front Biosci. 7: E27-32
  

• Saez B, Martin-Subero JI, Lahortiga I, Largo C, Larrayoz MJ, Odero MD, Prosper F, Cigudosa JC, Siebert R, Calasanz M (2007) Simultaneous translocations of FGFR3/MMSET and CCND1 into two different IGH alleles in multiple myeloma: lack of concurrent activation of both proto-oncogenes. Cancer Genet Cytogenet 175:65-68.
  

• Zhang YG, Bi XG, Han YL, Cai Y, Xu X, Wu YP, Yang YL, Ma JH, Zhao P, Jia XM, Wang MR (2007) [Detection of urothelial carcinoma of the urinary bladder by multicolor fluorescence in situ hybridization] Ai Zheng 26:189-193. Chinese
  

 multi-target mFISH for clinical cytogenetics

• Kang JU, Koo SH, Kwon KC, Park JW, Jung SS (2008) Gain of the EGFR gene located on 7p12 is a frequent and early event in squamous cell carcinoma of the lung. Cancer Genet Cytogenet 184:31-37.
  

• Liehr T, Mrasek K, Starke H, Claussen U, Schreiber G (2005) Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient. Cytogenet Genome Res 111: 179-181.
  

• Liehr T, Brude E, Gillessen-Kaesbach G, Konig R, Mrasek K, von Eggeling F, Starke H (2005) Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases. Eur J Med Genet 48: 175-181.
  

• Ogur G, Van Assche E, Liebaers I (2002) Preclinical work-up of preimplantation genetic diagnosis for chromosomal translocation carriers. In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives. The Karolinum Press, Prag, pp 236-253, ISBN: 80-246-0397-7.
  

• 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.
  

• von Beust G, Sauter SM, Liehr T, Burfeind P, Bartels I, Starke H, von Eggeling F, Zoll B (2005) Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay. Am J Med Genet A 137: 59-64.
  

• Weise A, Rittinger O, Starke H, Ziegler M, Claussen U, Liehr T (2003) De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature. Cytogenet Genome Res 103:14-16.
  

• Yoshimoto M, Ludkovski O, DeGrace D, Williams JL, Evans A, Sircar K, Bismar TA, Nuin P, Squire JA (2012) PTEN genomic deletions that characterize aggressive prostate cancer originate close to segmental duplications. Genes Chromosomes Cancer 51:149-160.
  

 mFISH used for mapping

• Puget N, Gad S, Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S (2002) Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 70: 858-865.
  

• Zhou B, Mo X, Liu X, Qiu W, Yen Y (2001) Human ribonucleotide reductase M2 subunit gene amplification and transcriptional regulation in a homogeneous staining chromosome region responsible for the mechanism of drug resistance. Cytogenet Cell Genet 95: 34-42.
  

• Yang S, Illner D, Teller K, Solovei I, van Driel R, Joffe B, Cremer T, Eils R, Rohr K (2008) Structural analysis of interphase X-chromatin based on statistical shape theory. Biochim Biophys Acta 1783:2089-2099.
  

 parental origin determination FISH (pod-FISH)

• Mkrtchyan H, Gross M, Hinreiner S, Polytiko A, Manvelyan M, Mrasek K, Kosyakova N, Ewers E, Nelle H, Liehr T, Bhatt S, Thoma K, Gebhart E, Wilhelm S, Fahsold R, Volleth M, Weise A (2010) The human genome puzzle - the role of copy number variation in somatic mosaicism. Curr Genomics 11:426-431.
  

• Mkrtchyan H, Gross M, Hinreiner S, Polytiko A, Manvelyan M, Mrasek K, Kosyakova N, Ewers E, Nelle H, Liehr T, Volleth M, Weise A (2010) Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One 5:e9591.
  

• Polityko AD, Khurs OM, Kulpanovich AI, Mosse KA, Solntsava AV, Rumyantseva NV, Naumchik IV, Liehr T, Weise A, Mkrtchyan H (2009) Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome. Eur J Med Genet 52:207-210.
  

• Weise A, Gross M, Mrasek K, Mkrtchyan H, Horsthemke B, Jonsrud C, Von Eggeling F, Hinreiner S, Witthuhn V, Claussen U, Liehr T (2008) Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level. Int J Mol Med 21:189-200.
  

• Weise A, Gross M, Hinreiner S, Witthuhn V, Mkrtchyan H, Liehr T (2010) POD-FISH: a new technique for parental origin determination based on copy number variation polymorphism. Methods Mol Biol 659:291-298.