| | Other Issues: previous | next | latest | archiveCase Reports A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man Laura Rodríguez, Tomas Liehr, María Luisa Martínez-Fernández, Ana Lara, Antonio Torres, and María Luisa Martínez-Frías PMCID: PMC2375880 Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement Oleg A Shchelochkov, M Lance Cooper, Zhishuo Ou, Sandra Peacock, Svetlana A Yatsenko, Chester W Brown, Ping Fang, Pawel Stankiewicz, and Sau Wai Cheung PMCID: PMC2518151 Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases Ashutosh Halder, Manish Jain, Madhulika Kabra, and Neerja Gupta PMCID: PMC2527005 Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report 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 PMCID: PMC2538529 Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity 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 PMCID: PMC2533344 Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr, and Michael B Petersen PMCID: PMC2587471 Editorials A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics Yuri B Yurov, Thomas Liehr, Lisa G Shaffer, Ivan Y Iourov, and Svetlana G Vorsanova PMCID: PMC2367691 Chromosomal mosaicism goes global Ivan Y Iourov, Svetlana G Vorsanova, and Yuri B Yurov PMCID: PMC2612668 Methodology Direct fluorescent labelling of clones by DOP PCR Liesbeth Backx, Reinhilde Thoelen, Hilde Van Esch, and Joris R Vermeesch PMCID: PMC2375879 An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1) Mahmoud S Khaniani, Paul Kalitsis, Trent Burgess, and Howard R Slater PMCID: PMC2375882 Research Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis Joo Wook Ahn, Kathy Mann, Zoe Docherty, and Caroline Mackie Ogilvie PMCID: PMC2375878 Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? 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 PMCID: PMC2375881 Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization Karen D Tsuchiya, Kent E Opheim, Mark C Hannibal, Anne V Hing, Ian A Glass, Michael L Raff, Thomas Norwood, and Beth A Torchia PMCID: PMC2375883 Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication 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 PMCID: PMC2408925 Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon Marina Manvelyan, Friederike Hunstig, Kristin Mrasek, Samarth Bhatt, Franck Pellestor, Anja Weise, and Thomas Liehr PMCID: PMC2390566 Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization Donatella Caserta, Moncef Benkhalifa, Marina Baldi, Francesco Fiorentino, Mazin Qumsiyeh, and Massimo Moscarini PMCID: PMC2435107 Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them Thomas Liehr, Kristin Mrasek, Nadezda Kosyakova, Caroline Mackie Ogilvie, Joris Vermeesch, Vladimir Trifonov, and Nikolai Rubtsov PMCID: PMC2427039 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, 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 PMCID: PMC2442098 FISH mapping of Philadelphia negative BCR/ABL1 positive CML 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 PMCID: PMC2500019 Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype Carolina Sismani, Sofia Kitsiou-Tzeli, Marios Ioannides, Christodoulos Christodoulou, Violetta Anastasiadou, Goula Stylianidou, Eleftheria Papadopoulou, Emanuel Kanavakis, Zoe Kosmaidou-Aravidou, and Philippos C Patsalis PMCID: PMC2516517 Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding Nilüfer Karadeniz, Kristin Mrasek, and Anja Weise PMCID: PMC2531127 On the origin of trisomy 21 Down syndrome Maj A Hultén, Suketu D Patel, Maira Tankimanova, Magnus Westgren, Nikos Papadogiannakis, Anna Maria Jonsson, and Erik Iwarsson PMCID: PMC2564957 Rapid and reliable diagnosis of murine myeloid leukemia (ML) by FISH of peripheral blood smear using probe of PU. 1, a candidate ML tumor suppressor Reiko Kanda, Satsuki Tsuji, Yasushi Ohmachi, Yuka Ishida, Nobuhiko Ban, and Yoshiya Shimada PMCID: PMC2572613 Chromosome distribution in human sperm – a 3D multicolor banding-study Marina Manvelyan, Friederike Hunstig, Samarth Bhatt, Kristin Mrasek, Franck Pellestor, Anja Weise, Isabella Simonyan, Rouben Aroutiounian, and Thomas Liehr PMCID: PMC2613144 Validation of DNA probes for molecular cytogenetics by mapping onto immobilized circular DNA Karin M Greulich-Bode, Mei Wang, Andreas P Rhein, Jingly F Weier, and Heinz-Ulli G Weier PMCID: PMC2630919 Short Report Chromosomal assignment of canine THADA gene to CFA 10q25 Jan T Soller, Claudia Beuing, Hugo Murua Escobar, Susanne Winkler, Nicola Reimann-Berg, Norbert Drieschner, Gaudenz Dolf, Claude Schelling, Ingo Nolte, and Jörn Bullerdiek PMCID: PMC2430699 |
