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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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