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  1. Content type: Review

    Trisomy of chromosome 21 (T21; Down syndrome, DS) is the most common aneuploidy in live births. Though its etiology has been intensively studied for a half of century, there are surprisingly many problems awai...

    Authors: Natalia V Kovaleva

    Citation: Molecular Cytogenetics 2010 3:7

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  2. Content type: Case report

    The so-called Philadelphia (Ph) chromosome is present in almost all cases with chronic myeloid leukemia (CML). Around 5-10% of these patients show complex translocations involving other chromosomes in addition...

    Authors: Walid Al Achkar, Abdulsamad Wafa, Hasmik Mkrtchyan, Faten Moassass and Thomas Liehr

    Citation: Molecular Cytogenetics 2010 3:6

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  3. Content type: Research

    ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransfera...

    Authors: Anna Polityko, Olga Khurs, Natalia Rumyantseva, Irina Naumchik, Nadezda Kosyakova, Holger Tönnies, Karl Sperling, Heidemarie Neitzel, Anja Weise and Thomas Liehr

    Citation: Molecular Cytogenetics 2010 3:5

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  4. Content type: Research

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

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

    Citation: Molecular Cytogenetics 2010 3:4

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  5. Content type: Research

    The 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication...

    Authors: John CK Barber, Dave Bunyan, Merryl Curtis, Denise Robinson, Susanne Morlot, Anette Dermitzel, Thomas Liehr, Claudia Alves, Joana Trindade, Ana I Paramos, Clare Cooper, Kevin Ocraft, Emma-Jane Taylor and Viv K Maloney

    Citation: Molecular Cytogenetics 2010 3:3

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  6. Content type: Case report

    Two related family members, a female and a male balanced carrier of an intrachromosomal insertion on chromosome 7 were referred to our centre for preimplantation genetic diagnosis. This presented a rare opport...

    Authors: Leoni Xanthopoulou, Anna Mantzouratou, Anastasia Mania, Suzanne Cawood, Alpesh Doshi, Domenico M Ranieri and Joy DA Delhanty

    Citation: Molecular Cytogenetics 2010 3:2

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  7. Content type: Case report

    Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 dupl...

    Authors: David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman and N Carolyn Schanen

    Citation: Molecular Cytogenetics 2009 2:27

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  8. Content type: Case report

    Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been pr...

    Authors: Emmanouil Manolakos, Sandro Orru, Rosita Neroutsou, Konstantinos Kefalas, Eirini Louizou, Ioannis Papoulidis, Loretta Thomaidis, Panagiotis Peitsidis, Sotirios Sotiriou, George Kitsos, Panagiota Tsoplou, Michael B Petersen and Aikaterini Metaxotou

    Citation: Molecular Cytogenetics 2009 2:26

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  9. Content type: Case report

    Ring chromosome 10 is a rare cytogenetic finding. Of the less than 10 reported cases we have found in the literature, none was characterized using high-resolution microarray analysis. Ring chromosomes are freq...

    Authors: Cecilia Gunnarsson, Barbara Graffmann and Jon Jonasson

    Citation: Molecular Cytogenetics 2009 2:25

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  10. Content type: Case report

    Infertility is a natural mechanism of selection intended to prevent the delivery of a child with malformations or mental retardation. Male infertility is closely related to chromosomal abnormalities. This stud...

    Authors: Maria S Juchniuk de Vozzi, Silvio A Santos, Ciro S Pereira, Juliana F Cuzzi, Lucimar AF Laureano, José G Franco Jr and Lucia Martelli

    Citation: Molecular Cytogenetics 2009 2:24

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  11. Content type: Hypothesis

    Genomic instability (GIN) and chromosome instability (CIN) are two closely related ways to produce a variety of pathogenic conditions, i.e. cancer, neurodegeneration, chromosomal and genomic diseases. The GIN ...

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

    Citation: Molecular Cytogenetics 2009 2:23

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  12. Content type: Case report

    Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar.

    Authors: Frenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, Anja Weise, Jayesh Sheth, Manisha Desai, Joris Andrieux, Joris Vermeesch, Ahmed B Hamid, Monika Ziegler and Thomas Liehr

    Citation: Molecular Cytogenetics 2009 2:22

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  13. Content type: Case report

    The well-known typical fusion gene BCR/ABL can be observed in connection with a complex translocation event in only 2-10% of cases with chronic myeloid leukemia (CML). As currently most CML cases are treated w...

    Authors: Walid Al Achkar, Abdulsamad Wafa, Hasmik Mkrtchyan, Faten Moassass and Thomas Liehr

    Citation: Molecular Cytogenetics 2009 2:21

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  14. Content type: Research

    Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a pa...

    Authors: Lucia M Moraes, Leila CA Cardoso, Vera LS Moura, Miguel AM Moreira, Albert N Menezes, Juan C Llerena Jr and Héctor N Seuánez

    Citation: Molecular Cytogenetics 2009 2:20

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  15. Content type: Research

    Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases...

    Authors: Sara Lissoni, Simona Baronchelli, Nicoletta Villa, Valeria Lucchini, Enrico Betri, Pietro Cavalli and Leda Dalprà

    Citation: Molecular Cytogenetics 2009 2:19

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  16. Content type: Research

    The purpose of this study was to identify candidate metastasis suppressor genes from a mouse allograft model of prostate cancer (NE-10). This allograft model originally developed metastases by twelve weeks aft...

    Authors: Yajun Yi, Srinivas Nandana, Thomas Case, Colleen Nelson, Tatjana Radmilovic, Robert J Matusik and Karen D Tsuchiya

    Citation: Molecular Cytogenetics 2009 2:18

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  17. Content type: Case report

    Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Repor...

    Authors: Ryan N Traylor, Zheng Fan, Beth Hudson, Jill A Rosenfeld, Lisa G Shaffer, Beth S Torchia and Blake C Ballif

    Citation: Molecular Cytogenetics 2009 2:17

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  18. Content type: Research

    Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. As...

    Authors: Isabel M Carreira, Joana B Melo, Carlos Rodrigues, Liesbeth Backx, Joris Vermeesch, Anja Weise, Nadezda Kosyakova, Guiomar Oliveira and Eunice Matoso

    Citation: Molecular Cytogenetics 2009 2:16

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  19. Content type: Case report

    Complex chromosomal rearrangements (CCR) are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. H...

    Authors: Paula JP de Vree, Marleen EH Simon, Marieke F van Dooren, Gerda HT Stoevelaar, José TW Hilkmann, Michel A Rongen, Gido CM Huijbregts, Annemieke JMH Verkerk and Pino J Poddighe

    Citation: Molecular Cytogenetics 2009 2:15

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  20. Content type: Case report

    Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotyp...

    Authors: Dilek Aktas, Anja Weise, Eda Utine, Dursun Alehan, Kristin Mrasek, Ferdinand von Eggeling, Heike Thieme, Ergul Tuncbilek and Thomas Liehr

    Citation: Molecular Cytogenetics 2009 2:14

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  21. Content type: Methodology

    The objective of this work is to obtain the correct relative DNA contents of chromosomes in the normal male and female human diploid genomes for the use at FISH analysis of radiation-induced chromosome aberrat...

    Authors: Mikhail V Repin, Pavel I Golubev and Ludmila A Repina

    Citation: Molecular Cytogenetics 2009 2:13

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  22. Content type: Research

    A new chimerism analysis based on automated interphase fluorescence in situ hybridization (FISH) evaluation was established to detect residual cells after allogene sex-mismatched bone marrow or blood stem-cell...

    Authors: Jörn Erlecke, Isabell Hartmann, Martin Hoffmann, Torsten Kroll, Heike Starke, Anita Heller, Alexander Gloria, Herbert G Sayer, Tilman Johannes, Uwe Claussen, Thomas Liehr and Ivan F Loncarevic

    Citation: Molecular Cytogenetics 2009 2:12

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  23. Content type: Research

    The temporal order of allelic replication is interrelated to the epigenomic profile. A significant epigenetic marker is the asynchronous replication of monoallelically-expressed genes versus the synchronous re...

    Authors: Josepha Yeshaya, Itay Amir, Ayelet Rimon, Jane Freedman, Mordechai Shohat and Lydia Avivi

    Citation: Molecular Cytogenetics 2009 2:11

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  24. Content type: Research

    Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitativ...

    Authors: Bernd Auber, Verena Bruemmer, Barbara Zoll, Peter Burfeind, Detlef Boehm, Thomas Liehr, Knut Brockmann, Ekkehard Wilichowski, Loukas Argyriou and Iris Bartels

    Citation: Molecular Cytogenetics 2009 2:10

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  25. Content type: Case report

    Proximal 22q is rich in low copy repeats (LCRs) which mediate non-allelic homologous recombination and give rise to deletions and duplications of varying size depending on which LCRs are involved.

    Authors: Caroline Mackie Ogilvie, Joo Wook Ahn, Kathy Mann, Roland G Roberts and Frances Flinter

    Citation: Molecular Cytogenetics 2009 2:9

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  26. Content type: Erratum

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

    Citation: Molecular Cytogenetics 2009 2:8

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    The original article was published in Molecular Cytogenetics 2009 2:1

  27. Content type: Commentary

    Children with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) also called acute myeloid leukemia (AML) type M7. Here four yet unreported...

    Authors: Maria Luiza Macedo Silva, Maria do Socorro Pombo-de-Oliveira, Susana C Raimondi, Hasmik Mkrtchyan, Eliana Abdelhay, Amanda Faria de Figueiredo, Mariana Tavares de Souza, Daniela Ribeiro Ney Garcia, Eliane Maria Soares de Ventura, Adriana Martins de Sousa and Thomas Liehr

    Citation: Molecular Cytogenetics 2009 2:7

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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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