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  1. Content type: Case report

    WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromoso...

    Authors: Gitte J Almind, Karen Brøndum-Nielsen, Regitze Bangsgaard, Peter Baekgaard and Karen Grønskov

    Citation: Molecular Cytogenetics 2009 2:6

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  2. Content type: Research

    Characterization of disease-associated balanced translocations has led to the discovery of genes responsible for many disorders, including syndromes that include various forms of diabetes mellitus. We studied ...

    Authors: Elizabeth J Bhoj, Stefano Romeo, Marco G Baroni, Guy Bartov, Roger A Schultz and Andrew R Zinn

    Citation: Molecular Cytogenetics 2009 2:5

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  3. Content type: Research

    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.

    Authors: Nadezda Kosyakova, Anja Weise, Kristin Mrasek, Uwe Claussen, Thomas Liehr and Heike Nelle

    Citation: Molecular Cytogenetics 2009 2:4

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  4. Content type: Case report

    Ring chromosomes are normally associated with developmental anomalies and are rarely inherited. An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to inves...

    Authors: Anna Mantzouratou, Anastasia Mania, Marianna Apergi, Sarah Laver, Paul Serhal and JDA Delhanty

    Citation: Molecular Cytogenetics 2009 2:3

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  5. Content type: Case report

    Complex chromosome rearrangements (CCRs), which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, ...

    Authors: Roland Haj, Kelly Jackson, Beth A Torchia, Lisa G Shaffer, Bassem A Bejjani, Gordon C Gowans and Michael E Ruff

    Citation: Molecular Cytogenetics 2009 2:2

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  6. Content type: Case report

    The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated...

    Authors: Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr and Aikaterini Metaxotou

    Citation: Molecular Cytogenetics 2009 2:1

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  7. Content type: Research

    Fluorescence in situ hybridization (FISH) is a sensitive and rapid procedure to detect gene rearrangements in tumor cells using non-isotopically labeled DNA probes. Large insert recombinant DNA clones such as bac...

    Authors: Karin M Greulich-Bode, Mei Wang, Andreas P Rhein, Jingly F Weier and Heinz-Ulli G Weier

    Citation: Molecular Cytogenetics 2008 1:28

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  8. Content type: Research

    In routine Assisted Reproductive Technology (ART) men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the b...

    Authors: Serdar Kasakyan, Laurence Lohmann, Azeddine Aboura, Mazin Quimsiyeh, Yves Menezo, Gerard Tachdjian and Moncef Benkhalifa

    Citation: Molecular Cytogenetics 2008 1:27

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  9. Content type: Editorial

    Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploid...

    Authors: Ivan Y Iourov, Svetlana G Vorsanova and Yuri B Yurov

    Citation: Molecular Cytogenetics 2008 1:26

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  10. Content type: Research

    Nuclear architecture studies in human sperm are sparse. By now performed ones were practically all done on flattened nuclei. Thus, studies close at the in vivo state of sperm, i.e. on three-dimensionally conserve...

    Authors: Marina Manvelyan, Friederike Hunstig, Samarth Bhatt, Kristin Mrasek, Franck Pellestor, Anja Weise, Isabella Simonyan, Rouben Aroutiounian and Thomas Liehr

    Citation: Molecular Cytogenetics 2008 1:25

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  11. Content type: Case report

    We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with ...

    Authors: Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr and Michael B Petersen

    Citation: Molecular Cytogenetics 2008 1:24

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  12. Content type: Research

    Jacobsen syndrome is a rare contiguous gene disorder that results from a terminal deletion of the long arm of chromosome 11. It is typically characterized by intellectual disability, a variety of physical anom...

    Authors: Christine Tyson, Ying Qiao, Chansonette Harvard, Xudong Liu, Francois P Bernier, Barbara McGillivray, Sandra A Farrell, Laura Arbour, Albert E Chudley, Lorne Clarke, William Gibson, Sarah Dyack, Ross McLeod, Teresa Costa, Margot I VanAllen, Siu-li Yong…

    Citation: Molecular Cytogenetics 2008 1:23

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  13. Content type: Research

    Murine myeloid leukemia (ML) provides a good animal model to study the mechanisms of radiation-induced leukemia in humans. This disease has been cytogenetically characterized by a partial deletion of chromosom...

    Authors: Reiko Kanda, Satsuki Tsuji, Yasushi Ohmachi, Yuka Ishida, Nobuhiko Ban and Yoshiya Shimada

    Citation: Molecular Cytogenetics 2008 1:22

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  14. Content type: Research

    Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 most often originates...

    Authors: Maj A Hultén, Suketu D Patel, Maira Tankimanova, Magnus Westgren, Nikos Papadogiannakis, Anna Maria Jonsson and Erik Iwarsson

    Citation: Molecular Cytogenetics 2008 1:21

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  15. Content type: Case report

    Malignant melanomas are characterized by increased karyotypic complexity, extended aneuploidy and heteroploidy. We report a melanoma metastasis to the peritoneal cavity with an exceptionally stable, abnormal p...

    Authors: Sarantis Gagos, George Papaioannou, Maria Chiourea, Sophie Merk-Loretti, Charles-Edward Jefford, Panagiota Mikou, Irmgard Irminger-Finger, Anna Liossi, Jean-Louis Blouin and Sophie Dahoun

    Citation: Molecular Cytogenetics 2008 1:20

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  16. Content type: Case report

    Small supernumerary marker chromosomes (sSMC) occur in 0.075% of unselected prenatal and in 0.044% of consecutively studied postnatal cases. Individuals with sSMC present with varying phenotype, ranging from n...

    Authors: Sabita K Murthy, Ashok K Malhotra, Preenu S Jacob, Sehba Naveed, Eman EM Al-Rowaished, Sara Mani, Shabeer Padariyakam, R Pramathan, Ravi Nath, Mahmoud Taleb Al-Ali and Lihadh Al-Gazali

    Citation: Molecular Cytogenetics 2008 1:19

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  17. Content type: Case report

    We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient present...

    Authors: Oleg A Shchelochkov, M Lance Cooper, Zhishuo Ou, Sandra Peacock, Svetlana A Yatsenko, Chester W Brown, Ping Fang, Pawel Stankiewicz and Sau Wai Cheung

    Citation: Molecular Cytogenetics 2008 1:16

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  18. Content type: Research

    Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12 patients, six de n...

    Authors: Carolina Sismani, Sofia Kitsiou-Tzeli, Marios Ioannides, Christodoulos Christodoulou, Violetta Anastasiadou, Goula Stylianidou, Eleftheria Papadopoulou, Emanuel Kanavakis, Zoe Kosmaidou-Aravidou and Philippos C Patsalis

    Citation: Molecular Cytogenetics 2008 1:15

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  19. Content type: Research

    Chronic myeloid leukaemia (CML) is a haematopoietic stem cell disorder, almost always characterized by the presence of the Philadelphia chromosome (Ph), usually due to t(9;22)(q34;q11) or its variants. The Ph ...

    Authors: Anna Virgili, Diana Brazma, Alistair G Reid, Julie Howard-Reeves, Mikel Valgañón, Anastasios Chanalaris, Valeria AS De Melo, David Marin, Jane F Apperley, Colin Grace and Ellie P Nacheva

    Citation: Molecular Cytogenetics 2008 1:14

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  20. Content type: Research

    Autosomal monosomies in human are generally suggested to be incompatible with life; however, there is quite a number of cytogenetic reports describing full monosomy of one chromosome 21 in live born children. ...

    Authors: Svetlana G Vorsanova, Ivan Y Iourov, Victoria Y Voinova-Ulas, Anja Weise, Victor V Monakhov, Alexei D Kolotii, Ilia V Soloviev, Petr V Novikov, Yuri B Yurov and Thomas Liehr

    Citation: Molecular Cytogenetics 2008 1:13

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  21. Content type: Research

    Small supernumerary marker chromosomes (sSMC) and B-chromosomes represent a heterogeneous collection of chromosomes added to the typical karyotype, and which are both small in size. They may consist of heteroc...

    Authors: Thomas Liehr, Kristin Mrasek, Nadezda Kosyakova, Caroline Mackie Ogilvie, Joris Vermeesch, Vladimir Trifonov and Nikolai Rubtsov

    Citation: Molecular Cytogenetics 2008 1:12

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  22. Content type: Short report

    Chromosomal translocations affecting the chromosome 2p21 cluster in a 450 kb breakpoint region are frequently observed in human benign thyroid adenomas. THADA (thyroid adenoma associated) was identified as the af...

    Authors: Jan T Soller, Claudia Beuing, Hugo Murua Escobar, Susanne Winkler, Nicola Reimann-Berg, Norbert Drieschner, Gaudenz Dolf, Claude Schelling, Ingo Nolte and Jörn Bullerdiek

    Citation: Molecular Cytogenetics 2008 1:11

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  23. Content type: Research

    Routine cytogenetic investigations for ovarian cancers are limited by culture failure and poor growth of cancer cells compared to normal cells. Fluorescence in situ Hybridization (FISH) application or classical c...

    Authors: Donatella Caserta, Moncef Benkhalifa, Marina Baldi, Francesco Fiorentino, Mazin Qumsiyeh and Massimo Moscarini

    Citation: Molecular Cytogenetics 2008 1:10

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  24. Content type: Research

    Even though comparative nuclear architecture studies in hominoids are sparse, nuclear chromosome architecture was shown to be conserved during hominoid evolution. Thus, it is suspected that yet unknown biologi...

    Authors: Marina Manvelyan, Friederike Hunstig, Kristin Mrasek, Samarth Bhatt, Franck Pellestor, Anja Weise and Thomas Liehr

    Citation: Molecular Cytogenetics 2008 1:9

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  25. Content type: Research

    Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. G...

    Authors: Blake C Ballif, Aaron Theisen, Justine Coppinger, Gordon C Gowans, Joseph H Hersh, Suneeta Madan-Khetarpal, Karen R Schmidt, Raymond Tervo, Luis F Escobar, Christopher A Friedrich, Marie McDonald, Lindsey Campbell, Jeffrey E Ming, Elaine H Zackai, Bassem A Bejjani and Lisa G Shaffer

    Citation: Molecular Cytogenetics 2008 1:8

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  26. Content type: Research

    Supernumerary marker chromosomes (SMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified by conventional banding techniques. In the past, SMCs have been characterized using a...

    Authors: Karen D Tsuchiya, Kent E Opheim, Mark C Hannibal, Anne V Hing, Ian A Glass, Michael L Raff, Thomas Norwood and Beth A Torchia

    Citation: Molecular Cytogenetics 2008 1:7

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  27. Content type: Research

    Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal o...

    Authors: Vladimir Trifonov, Simon Fluri, Franz Binkert, Adayapalam Nandini, Jasen Anderson, Laura Rodriguez, Madeleine Gross, Nadezda Kosyakova, Hasmik Mkrtchyan, Elisabeth Ewers, Daniela Reich, Anja Weise and Thomas Liehr

    Citation: Molecular Cytogenetics 2008 1:6

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  28. Content type: Methodology

    Fragile X syndrome (OMIM #300624) is the most common, recognised, heritable cause of mental retardation. Widespread testing is warranted by the relatively high frequency of the disorder, the benefits of early ...

    Authors: Mahmoud S Khaniani, Paul Kalitsis, Trent Burgess and Howard R Slater

    Citation: Molecular Cytogenetics 2008 1:5

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  29. Content type: Case report

    Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FIS...

    Authors: Laura Rodríguez, Tomas Liehr, María Luisa Martínez-Fernández, Ana Lara, Antonio Torres and María Luisa Martínez-Frías

    Citation: Molecular Cytogenetics 2008 1:4

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  30. Content type: Methodology

    Array Comparative Genomic Hybridisation (array CGH) is a powerful technique for the analysis of constitutional chromosomal anomalies. Chromosomal duplications or deletions detected by array CGH need subsequent...

    Authors: Liesbeth Backx, Reinhilde Thoelen, Hilde Van Esch and Joris R Vermeesch

    Citation: Molecular Cytogenetics 2008 1:3

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  31. Content type: Research

    Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtel...

    Authors: Joo Wook Ahn, Kathy Mann, Zoe Docherty and Caroline Mackie Ogilvie

    Citation: Molecular Cytogenetics 2008 1:2

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