Thomas Liehr

Summary

Affiliation: Friedrich Schiller University
Country: Germany

Publications

  1. ncbi Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 1:12. 2008
  2. ncbi Automated detection of residual cells after sex-mismatched stem-cell transplantation - evidence for presence of disease-marker negative residual cells
    Jörn Erlecke
    Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 2:12. 2009
  3. ncbi Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics
    Elisabeth Klein
    Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 5:15. 2012
  4. ncbi Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report
    Walid Al Achkar
    Molecular Biology and Biotechnology Department, Human Genetics Div, Atomic Energy Commission of Syria, P, O, Box 6091, Damascus, Syria
    Mol Cytogenet 2:21. 2009
  5. ncbi Chromosome distribution in human sperm - a 3D multicolor banding-study
    Marina Manvelyan
    Department of Genetic and Laboratory of Cytogenetics, State University, Yerevan, Armenia
    Mol Cytogenet 1:25. 2008
  6. ncbi Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
    Anna Polityko
    National Medical Center Mother and Child, Orlovska Street 66, 220053 Minsk, Republic of Belarus
    Mol Cytogenet 3:5. 2010
  7. ncbi A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3
    Walid Al Achkar
    Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria
    Mol Cytogenet 3:6. 2010
  8. ncbi Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl
    Walid Al Achkar
    Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria
    Mol Cytogenet 3:18. 2010
  9. ncbi Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
    Maria Luiza Macedo Silva
    Department of Cytogenetic, The National Center for Bone Marrow Transplantation CEMO INCa, National Cancer Institute INCA, Rio de Janeiro, RJ, Brazil
    Mol Cytogenet 2:7. 2009
  10. ncbi Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
    Sofia Kitsiou-Tzeli
    Bioiatriki S, A, Kifisias Av, 132 and Papada, GR 115 26 Athens, Greece
    Mol Cytogenet 2:1. 2009

Detail Information

Publications86

  1. ncbi Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 1:12. 2008
    ..According to current theories, sSMC would need drive, drift or beneficial effects to increase in frequency in order to become B chromosome. However, up to now no B-chromosomes were described in human...
  2. ncbi Automated detection of residual cells after sex-mismatched stem-cell transplantation - evidence for presence of disease-marker negative residual cells
    Jörn Erlecke
    Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 2:12. 2009
    ..The automatic slide scanning platform Metafer with its module MetaCyte was used to analyse 3,000 cells per sample...
  3. ncbi Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics
    Elisabeth Klein
    Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 5:15. 2012
    ..abstract:..
  4. ncbi Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report
    Walid Al Achkar
    Molecular Biology and Biotechnology Department, Human Genetics Div, Atomic Energy Commission of Syria, P, O, Box 6091, Damascus, Syria
    Mol Cytogenet 2:21. 2009
    ..As currently most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though the emergence of therapy resistance remains to be studied...
  5. ncbi Chromosome distribution in human sperm - a 3D multicolor banding-study
    Marina Manvelyan
    Department of Genetic and Laboratory of Cytogenetics, State University, Yerevan, Armenia
    Mol Cytogenet 1:25. 2008
    ..Thus, studies close at the in vivo state of sperm, i.e. on three-dimensionally conserved interphase cells, are lacking by now. Only the position of 14 chromosomes in human sperm was studied...
  6. ncbi Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?
    Anna Polityko
    National Medical Center Mother and Child, Orlovska Street 66, 220053 Minsk, Republic of Belarus
    Mol Cytogenet 3:5. 2010
    ..However, in the literature similar clinical cases without such mutations are reported, as well...
  7. ncbi A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3
    Walid Al Achkar
    Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria
    Mol Cytogenet 3:6. 2010
    ..As nowadays most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though events of therapy resistance remain to be studied...
  8. ncbi Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl
    Walid Al Achkar
    Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria
    Mol Cytogenet 3:18. 2010
    ..The degree of clinical severity in partial trisomy 9p roughly correlates with the size of the chromosomal imbalance. Therefore, breakpoints as well as clinical findings need to be precisely defined for differential diagnosis...
  9. ncbi Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
    Maria Luiza Macedo Silva
    Department of Cytogenetic, The National Center for Bone Marrow Transplantation CEMO INCa, National Cancer Institute INCA, Rio de Janeiro, RJ, Brazil
    Mol Cytogenet 2:7. 2009
    ..Here four yet unreported infants with such malignancies are reported...
  10. ncbi Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
    Sofia Kitsiou-Tzeli
    Bioiatriki S, A, Kifisias Av, 132 and Papada, GR 115 26 Athens, Greece
    Mol Cytogenet 2:1. 2009
    ..After genetic counseling, the parents decided to continue the pregnancy, and a boy with minor phenotypic variants was born after 39 weeks of pregnancy. The case is compared with four other cases of prenatally detected r(20) mosaicism...
  11. ncbi Rapid prenatal diagnostics in the interphase nucleus: procedure and cut-off rates
    Thomas Liehr
    Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D 07743 Jena, Germany
    J Histochem Cytochem 53:289-91. 2005
    ..In summary, the method is reliable, and the risk for misdiagnosis is low ( approximately 0.4%). Nonetheless, the test should be used exclusively as a preamble to full chromosome analysis by microscopy...
  12. ncbi Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
    Vladimir Trifonov
    Institut fur Humangenetik und Anthropologie, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 1:6. 2008
    ..Besides the sSMC present in Emanuel syndrome, i.e. der(22)t(11;22)(q23;q11), only few so-called complex sSMC are reported...
  13. ncbi Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon
    Marina Manvelyan
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 1:9. 2008
    ..Thus, it is suspected that yet unknown biological mechanisms must underlie this observation...
  14. ncbi Small supernumerary marker chromosomes (sSMC) in humans
    T Liehr
    Institute of Human Genetics and Anthropology, Jena, Germany
    Cytogenet Genome Res 107:55-67. 2004
    ..A short review of the up-to-date approaches available for sSMC characterization is included. Clinically relevant correlations concerning the presence of a specific sSMC and its phenotypic consequences should become available soon...
  15. ncbi New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank
    Holger Tonnies
    Institute of Human Genetics, Charite Campus Virchow, Berlin, Germany
    J Histochem Cytochem 55:651-60. 2007
    ..The 16 cases provide information to establish a refined genotype-phenotype correlation of sSMC and are available for future studies...
  16. ncbi Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature
    T Liehr
    Institut fur Humangenetik und Anthropologie, Jena, Germany
    Sex Dev 1:353-62. 2007
    ..Thus, more cases with detailed (molecular) cytogenetic marker chromosome characterization are needed to provide information on formation and effects of an sSMC(T)...
  17. ncbi Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Jena, Germany
    Int J Mol Med 19:719-31. 2007
    ..Thus, in summary there is a strong need for a better genotype-phenotype correlation enabling better genetic counseling...
  18. ncbi Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Jena, Germany
    Eur J Med Genet 48:175-81. 2005
    ..The present case as well as the review of similar cases provides further evidence for the necessity to test UPD in prenatal cases with a de novo sSMC and in postnatal cases with otherwise unexplainable clinical phenotype...
  19. ncbi Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient
    T Liehr
    Institut fur Humangenetik und Anthropologie, Jena, Germany
    Cytogenet Genome Res 111:179-81. 2005
    ..The patient's clinical features are discussed in connection with other Klinefelter cases and possible consequences of presence of the sSMC(9). Furthermore, a suggestion is made for the mode of sSMC-formation in this case...
  20. ncbi Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation
    T Liehr
    Institut fur Humangenetik und Anthropologie, Jena, Germany
    Cytogenet Genome Res 112:23-34. 2006
    ..Based on analysis of these cases we present the first draft of a basic genotype-phenotype correlation for sSMC for all human chromosomes apart from the chromosomes Y, 10, 11 and 13...
  21. ncbi Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC
    Thomas Liehr
    Institut fur Humangenetik und Anthropologie, D 07740 Jena, Germany
    Am J Med Genet A 140:46-51. 2006
    ..1 approximately 12 --> q10::q10 --> p11.1 approximately 12::), respectively. Reversed array CGH using the DNA of the microdissected sSMC as probe confirmed the FISH results and enabled the rapid mapping of the breakpoints...
  22. ncbi Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature
    T Liehr
    Institute of Human Genetics and Anthropology, Jena, Germany
    Cytogenet Genome Res 118:31-7. 2007
    ..In summary, we report three more neocentric sSMC cases, provide a review on all up to now published cases, highlight their special characteristics and compare them to centric sSMC...
  23. ncbi Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding
    T Liehr
    Institute of Human Genetics and Anthropology, Friedrich Schiller University, Jena, Germany
    Cytogenet Genome Res 114:240-4. 2006
    ....
  24. ncbi Molecular-cytogenetic characterization of the origin and the presence of pericentromeric euchromatin on minute supernumerary marker chromosomes (SMCs)
    T Liehr
    Institut fur Humangenetik und Anthropologie, 07740 Jena, Germany
    Chromosome Res 12:239-44. 2004
    ..These two approaches are highly informative and easy to perform, as demonstrated in the present report on the example of a prenatal case with a minute SMC derived from chromosome 3 cytogenetically described as min(3)(:p12.1 --> q11.2:)...
  25. ncbi 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
    Svetlana G Vorsanova
    Institute of Human Genetics and Anthropology, Friedrich Schiller University, Jena, Germany
    Mol Cytogenet 1:13. 2008
    ..Here, we report a cytogenetically similar case associated with congenital malformation including mental retardation, motor development delay, craniofacial dysmorphism and skeletal abnormalities...
  26. ncbi Multicolor FISH probe sets and their applications
    T Liehr
    Institute of Human Genetics and Anthropology, Jena, Germany
    Histol Histopathol 19:229-37. 2004
    ..Here we present a review on the available mFISH methods including their advantages, limitations and possible applications...
  27. ncbi New cytogenetically visible copy number variant in region 8q21.2
    Marina Manvelyan
    Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 4:1. 2011
    ..abstract:..
  28. ncbi Characterization of chromosomal rearrangements using multicolor-banding (MCB/m-band)
    Thomas Liehr
    Institut fur Humangenetik und Anthropologie, University of Jena, Jena, Germany
    Methods Mol Biol 659:231-8. 2010
    ..Here we describe the FISH-banding technique MCB/m-band and illustrate how to apply it for characterization of chromosomal breakpoints with a minimal number of FISH experiments...
  29. ncbi Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report
    Joaquín Fernández-Toral
    Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany
    J Med Case Reports 4:239. 2010
    ..Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs...
  30. ncbi Small supernumerary marker chromosomes 1 with a normal phenotype
    Thomas Liehr
    Jena University Hospital, Institute of Human Genetics and Anthropology, Germany
    J Chin Med Assoc 73:205-7. 2010
    ..Also, all available sSMC cases need to be collected on a homepage such as the Jena Institute of Human Genetics and Anthropology sSMC homepage (http://www.med.uni-jena.de/fish/sSMC/00START.htm)...
  31. ncbi First case of a neocentromere formation in an otherwise normal chromosome 7
    T Liehr
    Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany
    Cytogenet Genome Res 128:189-91. 2010
    ..Overall, we report a new case of centromere repositioning at a position not known to harbor an ancestral inactivated centromere...
  32. ncbi Cytogenetic contribution to uniparental disomy (UPD)
    Thomas Liehr
    Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 3:8. 2010
    ..Overall, as UPD is more but an interesting rarity, the genetic background of each "UPD-patient" needs to be characterized besides by molecular methods, also by molecular cytogenetics in detail...
  33. ncbi A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
    Frenny Sheth
    Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Mol Cytogenet 2:22. 2009
    ..Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar...
  34. ncbi Small supernumerary marker chromosomes and uniparental disomy have a story to tell
    Thomas Liehr
    Jena University Hospital, Institute of Human Genetics, Jena, Germany
    J Histochem Cytochem 59:842-8. 2011
    ..Overall, sSMC(U+) cases may have a story to tell about chromosome number control mechanisms in early embryogenesis...
  35. ncbi 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences
    T Liehr
    Institut fur Humangenetik und Anthropologie, Jena, Germany
    Cytogenet Genome Res 124:102-5. 2009
    ..To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences...
  36. ncbi The hierarchically organized splitting of chromosomal bands for all human chromosomes
    Nadezda Kosyakova
    Universitatsklinikum Jena, Institut fur Humangenetik und Anthropologie, Jena, Germany
    Mol Cytogenet 2:4. 2009
    ..Chromosome banding is widely used in cytogenetics. However, the biological nature of hierarchically organized splitting of chromosomal bands of human chromosomes is an enigma and has not been, as yet, studied...
  37. ncbi Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p?
    T Liehr
    Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, Germany
    Cytogenet Genome Res 132:121-3. 2011
    ..No comparable cases are available in the literature. Thus, we discuss here the possibility of having found a yet unrecognized chromosomal region subject to UBCA...
  38. ncbi Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification
    Heike Starke
    , Kollegiengasse 10, 07743 Jena, Germany
    Hum Genet 114:51-67. 2003
    ..With respect to clinical outcome, a classification of SMCs is proposed that considers molecular genetic and molecular cytogenetic characteristics as demonstrated by presently available methods...
  39. ncbi Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
    Walter Zumkeller
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Am J Med Genet A 129:261-4. 2004
    ..These findings contribute to the genotype/phenotype correlation in trisomy 12p patients...
  40. ncbi Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature
    Marina Manvelyan
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Int J Mol Med 21:705-14. 2008
    ..Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon...
  41. ncbi Delineation of yet unknown cryptic subtelomere aberrations in 50% of acute myeloid leukemia with normal GTG-banding karyotype
    Madeleine Gross
    Institut fur Humangenetik und Anthropologie, D 07743 Jena, Germany
    Int J Oncol 34:417-23. 2009
    ..g. RASA3 on chromosome 13. These results implicate that aberrations in the subtelomeric regions of NK-AML occur quite often and may be considered as primary genetic changes, and should not be neglected in future diagnostic approaches...
  42. ncbi Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set
    Anja Weise
    Institute of Human Genetics and Anthropology, D 07740 Jena, Germany
    J Histochem Cytochem 56:487-93. 2008
    ..In summary, the unique possibilities of the MCB technique to characterize chromosomal breakpoints in one FISH experiment are now complemented by the feature of being anchored within the human DNA sequence at the BAC level...
  43. ncbi Detailed Hylobates lar karyotype defined by 25-color FISH and multicolor banding
    Kristin Mrasek
    Institute of Human Genetics and Anthropology, D-07740 Jena, Germany
    Int J Mol Med 12:139-46. 2003
    ..In this study all 71 breakpoints present in HLA compared to HSA could be determined exactly. This study is a valuable complement to our knowledge on the phylogeny of huminoid chromosomes...
  44. ncbi First case of trisomy 13 plus mosaic trisomy 1q
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Jena, Germany
    Fetal Diagn Ther 17:133-6. 2002
    ..A mosaic karyotype 47,XY,+13,add(1)(q44)[3]/47,XY, +13[9]/46,XY[36] was detected. The purpose of the present study was to characterize the additional material on chromosome 1q...
  45. ncbi Early embryonic chromosome instability results in stable mosaic pattern in human tissues
    Hasmik Mkrtchyan
    Institute of Human Genetics and Anthropology, Jena University Hospital, Jena, Germany
    PLoS ONE 5:e9591. 2010
    ..We propose that further genomic studies should focus on the single-cell level, to better understand the aetiology of aging and diseases mediated by somatic mutations...
  46. ncbi New aspects of chromosomal evolution in the gorilla and the orangutan
    Anja Weise
    Institute of Human Genetics and Anthropology, D 07740 Jena, Germany
    Int J Mol Med 19:437-43. 2007
    ..The new molecular cytogenetic findings are discussed and compared with the available literature...
  47. ncbi Complex chromosomal rearrangements in a secondary acute myeloblastic leukemia after chemotherapy in TRAPS
    Anita Heller
    Institute of Human Genetics and Anthropology, Jena, Germany
    Oncol Rep 10:1789-92. 2003
    ..e. therapy related AML (tAML). Thus, AML in this case may result from a long-term therapy of TRAPS with methotrexate, cyclophosphamide, chlorambucile and cortisone...
  48. ncbi Handling small supernumerary marker chromosomes in prenatal diagnostics
    Thomas Liehr
    Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany
    Expert Rev Mol Diagn 9:317-24. 2009
    ..This article provides an overview on current state-of-the-art technologies and how sSMC analysis can be optimized in prenatal diagnostics...
  49. ncbi Current developments in human molecular cytogenetic techniques
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Jena, Germany
    Curr Mol Med 2:283-97. 2002
    ..In this review special emphasis has given in describing possible strategies for the characterization of marker and derivative chromosomes in tumor- and clinical cytogenetics...
  50. ncbi Cytogenetic characterisation and proteomic profiling of the Imatinib-resistant cell line KCL22-R
    Julia Rosenhahn
    Core Unit Chip Application, Institute of Human Genetics and Anthropology, Jena, Germany
    Int J Oncol 31:121-8. 2007
    ..In summary, we demonstrate here the complex changes on the cytogenetic and proteomic level which could be caused by Imatinib and the resistance resulting from it...
  51. ncbi Microdissection based high resolution multicolor banding for all 24 human chromosomes
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07740 Jena, Germany
    Int J Mol Med 9:335-9. 2002
    ..In conclusion, the MCB-technique is a high resolution alternative to other FISH based chromosome banding approaches and suited to clarify, which changes appeared in complex chromosomal rearrangements...
  52. ncbi Breakpoint differentiation in chromosomal aberrations of hematological malignancies: Identification of 33 previously unrecorded breakpoints
    Anita Heller
    Institute of Human Genetics and Anthropology, D-07743 Jena, Germany
    Int J Oncol 24:127-36. 2004
    ..Thus, MCB has proven to be a powerful and reliable method for screening of chromosomal aberrations, which considerably increased the accuracy of cytogenetic diagnosis...
  53. ncbi First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16
    Heike Starke
    Institute of Human Genetics and Anthropology, Jena, Germany
    Am J Med Genet A 116:26-30. 2003
    ..Until now only two similar cases have been described in the literature, but without clarifying the origin of the SMC and without looking for an additional UPD. This is the only reported case of a UPD 4p in a liveborn child...
  54. ncbi Another small supernumerary marker chromosome (sSMC) derived from chromosome 2: towards a genotype/phenotype correlation
    Kristin Mrasek
    , Kollegiengasse 10, D-07743 Jena, Germany
    J Histochem Cytochem 53:367-70. 2005
    ..Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested...
  55. ncbi Three cases with enlarged acrocentric p-arms and two cases with cryptic partial trisomies
    Heike Starke
    , Kollegiengasse 10, D-07743 Jena, Germany
    J Histochem Cytochem 53:359-60. 2005
    ..M-FISH and/or microdissection were used to resolve the nature of the rearrangements, i.e., partial trisomies 6 and 19...
  56. ncbi A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers
    Ina Fickelscher
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, Jena, Germany
    Prenat Diagn 27:783-5. 2007
    ..This finding is something common in sSMC carriers and could explain why up to the present no clinical correlations for sSMC mosaicism and clinical outcome in the corresponding carriers could be established...
  57. ncbi Detection of cryptic chromosomal aberrations in the in vitro non-proliferating cells of acute myeloid leukemia
    Constanze Karst
    Institute of Human Genetics and Anthropology, D-07743 Jena, Germany
    Int J Oncol 27:355-9. 2005
    ....
  58. ncbi Preferred co-localization of chromosome 8 and 21 in myeloid bone marrow cells detected by three dimensional molecular cytogenetics
    Marina Manvelyan
    Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany
    Int J Mol Med 24:335-41. 2009
    ..In summary, the concept that tissue specific spatial proximity of chromosomes leads to enhanced translocation frequencies was further supported...
  59. ncbi Highly complex karyotypic changes in acute myelogenous leukemia: a case report
    Anita Heller
    Institute of Human Genetics and Anthropology, D-07740 Jena, Germany
    Int J Oncol 23:139-43. 2003
    ..3-->8q24.2 or 8q24.2-->8q24.3::18p11.22-->18q21.3::5q14.3-->5q11::2q32-->2q12::20q13.2-->20q13.33), der(20)t(1;20;18)(1p36.33-->1p31.3-22.3::20p11.1-->20q11.2 or 20q11.2-->20p11.1::18p11.22-->18p11.32)...
  60. ncbi 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
    Anita Heller
    Institute of Human Genetics and Anthropology, Jena, Germany
    Int J Oncol 20:1179-81. 2002
    ..In consequence, the aberration leads to a partial deletion of the long arm of chromosome 5: del(5)(q21q33), which would not have been identified using conventional banding techniques or 24-color FISH...
  61. ncbi Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome
    Anna D Polityko
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    Eur J Med Genet 52:207-10. 2009
    ..Overall, this is to the best of our knowledge the first report of such a complex mosaic TS karyotype...
  62. ncbi The human genome puzzle - the role of copy number variation in somatic mosaicism
    Hasmik Mkrtchyan
    Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany
    Curr Genomics 11:426-31. 2010
    ..We propose that further genomic studies should focus on the single-cell level, to understand better the etiology and physiology of aging and diseases mediated by somatic variations...
  63. ncbi Dup(13)(q14.2-q14.3): yet another new differential diagnostic aspect for short stature-like phenotype
    Isolde Schreyer
    , Kollegiengasse 10, D-07743 Jena, Germany
    J Histochem Cytochem 53:365-6. 2005
    ..The reported chromosomal aberration is, together with two other cases reported in the literature, the first hint of a short stature-like phenotype due to dup(13)(q14.2q14.3)...
  64. ncbi A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for intracytoplasmatic sperm injection
    Alma Kuechler
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D 07743 Jena, Germany
    J Histochem Cytochem 53:355-7. 2005
    ....
  65. ncbi Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements
    Heike Starke
    Institute of Human Genetics and Anthropology, Jena, Germany
    Eur J Hum Genet 10:790-800. 2002
    ..They also demonstrate that constitutional inversions affecting the pericentromeric region of chromosome 9 carry breakpoints located preferentially in 9p12 or 9q13-21.1 and less frequently in 9q12...
  66. ncbi Evidence for interphase DNA decondensation transverse to the chromosome axis: a multicolor banding analysis
    Anja Weise
    Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07740 Jena, Germany
    Int J Mol Med 9:359-61. 2002
    ..The presented data are important for a better understanding of nuclear architecture, however, further studies are required...
  67. ncbi A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature
    Jörg Seidel
    Department of Paediatrics, Friedrich Schiller University, Kochstrasse 2, 07740 Jena, Germany
    Eur J Pediatr 162:582-8. 2003
    ..CONCLUSION: This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding...
  68. ncbi Heterogenic molecular basis for loss of ABL1-BCR transcription: deletions in der(9)t(9;22) and variants of standard t(9;22) in BCR-ABL1-positive chronic myeloid leukemia
    Ivan F Loncarevic
    Institute for Human Genetics and Anthropology, FSU, Jena, Germany
    Genes Chromosomes Cancer 34:193-200. 2002
    ..The heterogeneity of the underlying molecular mechanisms may explain divergent clinical implications described for patients with an ABL1-BCR deletion and those with no ABL1-BCR transcript...
  69. ncbi Characterization of a highly aberrant plasma cell leukemia karyotype: a case report
    Anita Heller
    Institute of Human Genetics and Anthropology, Jena, Germany
    Oncol Rep 11:89-92. 2004
    ..1 material and gain of Xq21.3-qter...
  70. ncbi The DNA-based structure of human chromosome 5 in interphase
    Johannes Lemke
    Institute of Human Genetics and Anthropology, Friedrich Schiller University, Jena, Germany
    Am J Hum Genet 71:1051-9. 2002
    ..The MCB pattern also allows the detection and characterization of chromosome aberrations. This may be of fundamental importance in establishing chromosome analyses in nondividing cells...
  71. ncbi Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye
    Detlef Boehm
    Institute of Human Genetics, University of Goettingen, Goettingen, Germany
    Hum Mutat 23:368-78. 2004
    ..g., deletion/duplication-syndromes and malignant cancers...
  72. ncbi Is 24-color FISH detection of in-vitro radiation-induced chromosomal aberrations suited to determine individual intrinsic radiosensitivity?
    Alma Kuechler
    Department of Radiotherapy, Clinic of Radiology, Jena, Germany
    Strahlenther Onkol 178:209-15. 2002
    ..The controls and NBS heterozygotes were clearly distinguished from the NBS homozygote subject...
  73. ncbi FISH banding methods: applications in research and diagnostics
    Thomas Liehr
    Institut fur Humangenetik und Anthropologie, D 07740 Jena, Germany
    Expert Rev Mol Diagn 2:217-25. 2002
    ....
  74. ncbi POD-FISH: a new technique for parental origin determination based on copy number variation polymorphism
    Anja Weise
    Institut fur Humangenetik und Anthropologie, University of Jena, Jena, Germany
    Methods Mol Biol 659:291-8. 2010
    ..Here we describe an improved POD-FISH protocol that exploits "high frequency" variants for better discrimination of homologous chromosomes...
  75. ncbi Novel complex t(V;9;22) rearrangements in three cases with chronic myeloid leukemia and a rare translocation in a case with classical Philadelphia chromosome
    Hasmik Mkrtchyan
    Institute of Human Genetics and Anthropology, D 07743 Jena, Germany
    Oncol Rep 20:99-104. 2008
    ..Moreover, in one of them two breakpoints on chromosome 9 were observed. The following chromosomal studies, during therapy by Imatinib, have revealed different cytogenetic responses...
  76. ncbi Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics
    Thomas Liehr
    Institute of Human Genetics and Anthropology, Friedrich Schiller University Jena, Jena, Germany
    Methods Mol Biol 444:27-38. 2008
    ..med.uni-jena.de/fish/sSMC/00START.htm./ For a more wide-ranging sSMC characterization, a specialized laboratory should be contacted, e.g., my laboratory...
  77. ncbi Residual chromosomal damage after radiochemotherapy with and without amifostine detected by 24-color FISH
    Alma Kuechler
    Department of Radiation Oncology, Friedrich Schiller University, Jena, Germany
    Strahlenther Onkol 179:493-8. 2003
    ..It was described previously that additional application of amifostine led to less acute skin and bowel toxicity. The present study was aimed to determine whether amifostine has an influence on the amount of residual chromosomal damage...
  78. ncbi Fluorescence in situ hybridization for prenatal screening of chromosomal aneuploidies
    Anja Weise
    Cytogenetics and Karyotypic Evolution, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany
    Expert Rev Mol Diagn 8:355-7. 2008
  79. ncbi Synovial fibroblasts and synovial macrophages from patients with rheumatoid arthritis and other inflammatory joint diseases show chromosomal aberrations
    Raimund W Kinne
    Experimental Rheumatology Unit, Friedrich Schiller University Jena, Jena, Germany
    Genes Chromosomes Cancer 38:53-67. 2003
    ....
  80. ncbi An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype
    Iris Bartels
    Institute of Human Genetics, University of Goettingen, Heinrich Dueker Weg 12, D 37073 Goettingen, Lower Saxonia, Germany
    Eur J Med Genet 50:133-8. 2007
    ..Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely...
  81. ncbi Increased efficiency of fluorescence in situ hybridization (FISH) using the microwave
    Anja Weise
    , Jena, Germany
    J Histochem Cytochem 53:1301-3. 2005
    ..Microwave FISH has been compared systematically with normal FISH, and we could demonstrate the efficiency of microwave irradiation especially in the first 100 min of hybridization...
  82. ncbi Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones
    Kristin Mrasek
    Institute of Human Genetics and Anthropology, D 07740 Jena, Germany
    Int J Oncol 36:929-40. 2010
    ..To handle FS better in future, an extension of the already existing alphabetical nomenclature for FS on single chromosomes is suggested...
  83. ncbi Rapid prenatal aneuploidy screening by fluorescence in situ hybridization (FISH)
    Anja Weise
    Institute of Human Genetics and Anthropology, Friedrich Schiller University Jena, Jena, Germany
    Methods Mol Biol 444:39-47. 2008
    ..Here, we explain how rapid prenatal aneuploidy screening is performed using the Food and Drug Administration-approved Aneu Vysion kit (Abbott/Vysis), and a review is given of drawbacks and opportunities of this method...
  84. ncbi Fluorescence in situ hybridization (FISH) on human chromosomes using photoprobe biotin-labeled probes
    Anja Weise
    Institute of Human Genetics, Jena, Germany
    J Histochem Cytochem 51:549-51. 2003
    ..Here we describe for the first time the successful use of Photoprobe biotin-labeled DNA probes in FISH experiments. Yeast artificial chromosome (YAC) and whole chromosome painting (wcp) probes were tested...
  85. ncbi Suspension (S)-FISH, a new technique for interphase nuclei
    Ulf Steinhaeuser
    Institute of Human Genetics, Jena, Germany
    J Histochem Cytochem 50:1697-8. 2002
    ..This so-called suspension-FISH (S-FISH) opens new possibilities for the analysis of shape and functions of the human interphase nucleus. The procedure is described and the first results using this approach are presented...
  86. ncbi Novel cryptic chromosomal rearrangements detected in acute lymphoblastic leukemia detected by application of new multicolor fluorescent in situ hybridization approaches
    Constanze Karst
    , D-07743 Jena, Germany
    Int J Oncol 28:891-7. 2006
    ..In summary, mMCB and subCTM were proven to be powerful methods in the screening for new cryptic chromosomal aberrations, which considerably increased the accuracy of cytogenetic diagnosis...