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  1. Deletions of the gene encoding mediator subcomplex 12 (MED12) in human smooth muscle tumors rank among the most frequent genomic alterations in human tumors at all. In a minority of these cases, small deletion...

    Authors: Dominique Nadine Markowski, Rolf Nimzyk, Gazanfer Belge, Thomas Löning, Burkhard Maria Helmke and Jörn Bullerdiek

    Citation: Molecular Cytogenetics 2013 6:23

    Content type: Research

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  2. Chromosomal abnormalities are common in embryos produced in vitro and cause implantation failure, miscarriage, and serious medical problems in infants. Because preimplantation genetic screening (PGS) is increasin...

    Authors: Mi Kyung Chung, Hyeon Jeong Jeong, Jung Hyun Lee, Sang-Jin Park, Hee-Doo Chung and Ho-Young Kang

    Citation: Molecular Cytogenetics 2013 6:22

    Content type: Short report

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  3. Array comparative genomic hybridization (CGH) is a powerful tool for detecting unbalanced chromosomal alterations. To validate the usefulness of array CGH in newborn screening, we examined 20,126 unselected in...

    Authors: Sang-Jin Park, Eun Hye Jung, Ran-Suk Ryu, Hyun Woong Kang, He Doo Chung and Ho-Young Kang

    Citation: Molecular Cytogenetics 2013 6:21

    Content type: Short report

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  4. Hearing loss is the most common birth defect and the most prevalent sensorineural disorder in developed countries. More than 50% of prelingual deafness is genetic, most often autosomal recessive and nonsyndrom...

    Authors: Nicole Hoppman, Umut Aypar, Pamela Brodersen, Neil Brown, Justin Wilson and Dusica Babovic-Vuksanovic

    Citation: Molecular Cytogenetics 2013 6:19

    Content type: Research

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  5. Acute myelogeneous leukemia (AML) is a malignancy of the hematopoietic stem cells, for which cytogenetic analysis is still one of the most important diagnostic and prognostic tools. Still, we are far away from...

    Authors: Walid Al-achkar, Abdulmunim Aljapawe, Moneeb Abdullah Kassem Othman and Abdulsamad Wafa

    Citation: Molecular Cytogenetics 2013 6:18

    Content type: Case report

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  6. Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of reco...

    Authors: Morteza Hemmat, Omid Hemmat, Arturo Anguiano, Fatih Z Boyar, Mohammed El Naggar, Jia-Chi Wang, Borris T Wang, Trilochan Sahoo, Renius Owen and Mary Haddadin

    Citation: Molecular Cytogenetics 2013 6:17

    Content type: Research

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  7. The editors of Molecular Cytogenetics would like to thank all our reviewers who have contributed to the journal in volume 5 (2012).

    Authors: Thomas Liehr, Henry Heng and Yuri Yurov

    Citation: Molecular Cytogenetics 2013 6:9

    Content type: Reviewer Acknowledgement

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  8. Array CGH is widely used in cytogenetics centres for postnatal constitutional genome analysis, and is now recommended as a first line test in place of G-banded chromosome analysis. At our centre, first line te...

    Authors: Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall and Caroline Mackie Ogilvie

    Citation: Molecular Cytogenetics 2013 6:16

    Content type: Short report

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  9. Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the ...

    Authors: Toshiyuki Yamamoto, Mari Matsuo, Shino Shimada, Noriko Sangu, Keiko Shimojima, Seijiro Aso and Kayoko Saito

    Citation: Molecular Cytogenetics 2013 6:15

    Content type: Case report

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  10. Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we...

    Authors: Nadezda Kosyakova, Ani Grigorian, Thomas Liehr, Marina Manvelyan, Isabella Simonyan, Hasmik Mkrtchyan, Rouben Aroutiounian, Anna D Polityko, Anna I Kulpanovich, Tatiana Egorova, Evgenia Jaroshevich, Alla Frolova, Natalia Shorokh, Irina V Naumchik, Marianne Volleth, Isolde Schreyer…

    Citation: Molecular Cytogenetics 2013 6:14

    Content type: Research

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  11. Nowadays, the genus Bryconamericus is placed in subfamily Stevardiinae within of Characidae, but not shows consistent evidence of monophyletism. The purpose of this work was to study the chromosomes of three spec...

    Authors: Diovani Piscor, Daniela Bocagini Ribacinko-Piscor, Carlos Alexandre Fernandes and Patricia Pasquali Parise-Maltempi

    Citation: Molecular Cytogenetics 2013 6:13

    Content type: Research

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  12. Despite the theoretical and experimental progress, our understanding on sex chromosome differentiation is still diagrammatic. The accumulation of repetitive DNA sequences is believed to occur in early stages o...

    Authors: Dongdong Xu, Bao Lou, Luiz Antonio Carlos Bertollo and Marcelo de Bello Cioffi

    Citation: Molecular Cytogenetics 2013 6:12

    Content type: Research

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  13. Karyotyping is considered the gold standard for the genome-wide detection of genomic imbalances in prenatal diagnosis, but it has a number of inherent limitations, namely the time required to culture cell and ...

    Authors: Qingwei Qi, Xiya Zhou, Yulin Jiang, Na Hao, Jing Zhou and Liang Zhang

    Citation: Molecular Cytogenetics 2013 6:11

    Content type: Case report

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  14. The ultimate goal of human genetics is to understand the role of genome variation in elucidating human traits and diseases. Besides single nucleotide polymorphism (SNP), copy number variation (CNV), defined as...

    Authors: Hoh BoonPeng and Khalid Yusoff

    Citation: Molecular Cytogenetics 2013 6:8

    Content type: Review

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  15. Array based comparative genomic hybridization (arrayCGH) has been increasingly used as the method of choice for diagnosis of patients with unexplained developmental delay/intellectual disability (DD/ID) but is...

    Authors: Leona Morozin Pohovski, Katja K Dumic, Ljubica Odak and Ingeborg Barisic

    Citation: Molecular Cytogenetics 2013 6:7

    Content type: Methodology

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  16. The multicolor banding (MCB/mBAND) technique provides a unique opportunity to characterize intrachromosomal rearrangements and to determine chromosomal breakpoints. Until recently, MCB probes have only been av...

    Authors: Nadezda Kosyakova, Ahmed Basheer Hamid, Arunrat Chaveerach, Krit Pinthong, Pornnarong Siripiyasing, Weerayuth Supiwong, Svetlana Romanenko, Vladimir Trifonov and Xiaobo Fan

    Citation: Molecular Cytogenetics 2013 6:6

    Content type: Methodology

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  17. The t(8;14)(q24.1;q32), the cytogenetic hallmark of Burkitt’s lymphoma, is also found, but rarely, in cases of chronic lymphocytic leukemia (CLL). Such translocation typically results in a MYC-IGH@ fusion subsequ...

    Authors: Ina Amarillo, Peter H Bui, Sibel Kantarci, Nagesh Rao, Brit S Shackley, Rolando García and Carlos A Tirado

    Citation: Molecular Cytogenetics 2013 6:5

    Content type: Case report

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  18. The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far.

    Authors: Daniela Di Benedetto, Giuseppa Di Vita, Corrado Romano, Mariangela Lo Giudice, Girolamo Aurelio Vitello, Marinella Zingale, Lucia Grillo, Lucia Castiglia, Sebastiano Antonino Musumeci and Marco Fichera

    Citation: Molecular Cytogenetics 2013 6:4

    Content type: Research

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  19. Obtaining a germ cell line is one of the most important steps in developing a transgenic or knockout mouse with a targeted mutated gene of interest. A common problem with this technology is that embryonic stem...

    Authors: Young Mi Kim, Ji-Yun Lee, Lijun Xia, John J Mulvihill and Shibo Li

    Citation: Molecular Cytogenetics 2013 6:3

    Content type: Research

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  20. The etiology of mental retardation/developmental delay (MRDD) remains a challenge to geneticists and clinicians and can be correlated to environmental and genetic factors. Chromosomal aberrations are common ca...

    Authors: Karla de Oliveira Pelegrino, Sofia Sugayama, Ana Lúcia Catelani, Karina Lezirovitz, Fernando Kok and Maria de Lourdes Chauffaille

    Citation: Molecular Cytogenetics 2013 6:2

    Content type: Case report

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  21. Errors during meiosis that affect synapsis and recombination between homologous chromosomes contribute to aneuploidy and infertility in humans. Despite the clinical relevance of these defects, we know very lit...

    Authors: Matthew E Johnson, Ross A Rowsey, Sofia Shirley, Catherine VandeVoort, Jeffrey Bailey and Terry Hassold

    Citation: Molecular Cytogenetics 2013 6:1

    Content type: Research

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  22. Array comparative genomic hybridization (CGH) has been repeatedly shown to be a successful tool for the identification of genomic variations in a clinical population. During the last decade, the implementation...

    Authors: Ivan Y Iourov, Svetlana G Vorsanova, Oxana S Kurinnaia, Maria A Zelenova, Alexandra P Silvanovich and Yuri B Yurov

    Citation: Molecular Cytogenetics 2012 5:46

    Content type: Research

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  23. Members of the Anostomidae family provide an interesting model system for the study of the influence of repetitive elements on genome composition, mainly because they possess numerous heterochromatic segments ...

    Authors: Edson Lourenço da Silva, Rafael Splendore de Borba and Patrícia Pasquali Parise-Maltempi

    Citation: Molecular Cytogenetics 2012 5:45

    Content type: Research

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  24. Anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangements have been reported in 2-13% of patients with non-small cell lung cancer (NSCLC). Patients with ALK rearrangements do not respond to EGFR-spec...

    Authors: Zunyan Dai, JoAnn C Kelly, Aurelia Meloni-Ehrig, Marilyn L Slovak, Debra Boles, Nicole C Christacos, Christine R Bryke, Steven A Schonberg, Jennifer Otani-Rosa, Qiulu Pan, Albert K Ho, Heather R Sanders, Zhong J Zhang, Dan Jones and Philip N Mowrey

    Citation: Molecular Cytogenetics 2012 5:44

    Content type: Research

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  25. Barrett’s esophagus (BE) is an asymptomatic, pre-malignant condition of the esophagus that can progress to esophageal adenocarcinoma (EAC). BE arises typically in individuals with long-standing gastroesophagea...

    Authors: Manisha Bajpai, Hana Aviv and Kiron M Das

    Citation: Molecular Cytogenetics 2012 5:43

    Content type: Research

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  26. Acute lymphoblastic leukemia (ALL) is a heterogeneous form of hematological cancer consisting of various subtypes. We are interested to study the genetic aberration in precursor B-cell ALL with specific t(12;2...

    Authors: Zubaidah Zakaria, Mohd Fadly Md Ahid, Azli Ismail, Ten Sew Keoh, Nooraisyah Mohamad Nor, Nor Rizan Kamaluddin, Ezalia Esa, Lam Kah Yuen, Eni Juraida Abdul Rahman and Raudhawati Osman

    Citation: Molecular Cytogenetics 2012 5:41

    Content type: Research

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  27. Chromosomal rearrangements of band 19q13.4 are frequent cytogenetic alterations in benign thyroid adenomas. Apparently, these alterations lead to the upregulation of genes encoding microRNAs of two clusters ma...

    Authors: Volkhard Rippe, Inga Flor, Johannes Wolfram Debler, Norbert Drieschner, Birgit Rommel, Daniel Krause, Klaus Junker and Jörn Bullerdiek

    Citation: Molecular Cytogenetics 2012 5:40

    Content type: Research

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  28. Chromosome changes in the bone marrow (BM) of patients with persistent cytopenia are often considered diagnostic for a myelodysplastic syndrome (MDS). Comprehensive cytogenetic evaluations may give evidence of...

    Authors: Cristina Marletta, Roberto Valli, Barbara Pressato, Lydia Mare, Giuseppe Montalbano, Giuseppe Menna, Giuseppe Loffredo, Maria Ester Bernardo, Luciana Vinti, Simona Ferrari, Alessandra Di Cesare-Merlone, Marco Zecca, Francesco Lo Curto, Franco Locatelli, Francesco Pasquali and Emanuela Maserati

    Citation: Molecular Cytogenetics 2012 5:39

    Content type: Research

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  29. To describe the diagnostic performance of array comparative genomic hybridization (aCGH) as a potential first line diagnostic method in first trimester high risk pregnancies.

    Authors: Isabel Filges, Anjeung Kang, Vanessa Klug, Friedel Wenzel, Karl Heinimann, Sevgi Tercanli and Peter Miny

    Citation: Molecular Cytogenetics 2012 5:38

    Content type: Research

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  30. Rodents have been reported to contain large arrays of interstitial telomeric sequences (TTAGGG)n (ITS) located in pericentromeric heterochromatin. The relative sizes of telomeric sequences at the ends of chrom...

    Authors: Liudmila V Solovjeva, Sergey Ju Demin, Nadezhda M Pleskach, Maria O Kuznetsova and Maria P Svetlova

    Citation: Molecular Cytogenetics 2012 5:37

    Content type: Research

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  31. The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 5′ part of the BCR gene on chromosome 22 to the 3′ part of the...

    Authors: Walid Al-achkar, Abdulsamad Wafa, Faten Moassass and Moneeb Abdullah Kassem Othman

    Citation: Molecular Cytogenetics 2012 5:36

    Content type: Case report

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  32. Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesia...

    Authors: Chrysantine Paramayuda, Hannie Kartapradja, Debby D Ambarwati, Helena W Anggaratri, Lita P Suciati, Nanis S Marzuki and Alida Harahap

    Citation: Molecular Cytogenetics 2012 5:35

    Content type: Case report

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  33. Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic ana...

    Authors: Jinsong Gao, Congcong Liu, Fengxia Yao, Na Hao, Jing Zhou, Qian Zhou, Liang Zhang, Xinyan Liu, Xuming Bian and Juntao Liu

    Citation: Molecular Cytogenetics 2012 5:33

    Content type: Research

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  34. The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X chromosome abnormalities account for 10% of chromosomal abe...

    Authors: Simona Baronchelli, Nicoletta Villa, Serena Redaelli, Sara Lissoni, Fabiana Saccheri, Elena Panzeri, Donatella Conconi, Angela Bentivegna, Francesca Crosti, Elena Sala, Francesca Bertola, Anna Marozzi, Antonio Pedicini, Marialuisa Ventruto, Maria Adalgisa Police and Leda Dalprà

    Citation: Molecular Cytogenetics 2012 5:32

    Content type: Research

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  35. Partial duplication and partial deletion of the short arm of chromosome 9 have each been reported in the literature as clinically recognizable syndromes. We present clinical, cytogenetic, and molecular finding...

    Authors: Daniel L Di Bartolo, Mohamed El Naggar, Renius Owen, Trilochan Sahoo, Fred Gilbert, Venkat R Pulijaal and Susan Mathew

    Citation: Molecular Cytogenetics 2012 5:31

    Content type: Case report

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  36. Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller...

    Authors: Milene Vianna Mulatinho, Cassio Luiz de Carvalho Serao, Fernanda Scalco, David Hardekopf, Sona Pekova, Kristin Mrasek, Thomas Liehr, Anja Weise, Nagesh Rao and Juan Clinton Llerena Jr

    Citation: Molecular Cytogenetics 2012 5:30

    Content type: Case report

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  37. Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocent...

    Authors: Morteza Hemmat, Boris T Wang, Peter E Warburton, Xiaojing Yang, Fatih Z Boyar, Mohammed El Naggar and Arturo Anguiano

    Citation: Molecular Cytogenetics 2012 5:29

    Content type: Research

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  38. Despite substantial progress, there are still several gaps in our knowledge about the process of sex chromosome differentiation. The degeneration of sex-specific chromosome in some species is well documented, ...

    Authors: Marcelo de Bello Cioffi, Eduard Kejnovský, Vinicius Marquioni, Juliana Poltronieri, Wagner Franco Molina, Débora Diniz and Luiz Antonio Carlos Bertollo

    Citation: Molecular Cytogenetics 2012 5:28

    Content type: Research

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    The Erratum to this article has been published in Molecular Cytogenetics 2012 5:42

  39. Undifferentiated embryonal sarcoma of the liver (UESL) represents a heterogeneous group of tumors derived from mesenchymal tissues. Earlier cytogenetic studies in limited cases demonstrated that UESL is associ...

    Authors: Xiaoxia Hu, Haiying Chen, Meishan Jin, Xianfu Wang, Jiyun Lee, Weihong Xu, Rui Zhang, Shibo Li and Junqi Niu

    Citation: Molecular Cytogenetics 2012 5:26

    Content type: Case report

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  40. Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q...

    Authors: Susana Isabel Ferreira, Eunice Matoso, Margarida Venâncio, Jorge Saraiva, Joana B Melo and Isabel Marques Carreira

    Citation: Molecular Cytogenetics 2012 5:25

    Content type: Case report

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  41. Single embryo transfer (SET) remains underutilized as a strategy to reduce multiple gestation risk in IVF, and its overall lower pregnancy rate underscores the need for improved techniques to select one embryo...

    Authors: Zhihong Yang, Jiaen Liu, Gary S Collins, Shala A Salem, Xiaohong Liu, Sarah S Lyle, Alison C Peck, E Scott Sills and Rifaat D Salem

    Citation: Molecular Cytogenetics 2012 5:24

    Content type: Methodology

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  42. Translocation (9;22)(q34;q11.2) resulting in BCR/ABL1 fusion at the molecular level is the hallmark of chronic myelogenous leukemia (CML). Variants of the Philadelphia translocation and complex translocations ...

    Authors: Mohamed M Elnaggar, Sally Agersborg, Trilochan Sahoo, Ati Girgin, Wanlong Ma, Ronjay Rakkhit, Isabel Zorrilla and Alexis Leal

    Citation: Molecular Cytogenetics 2012 5:23

    Content type: Case report

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  43. ZAP70 gene expression is associated with poor prognosis in B-cell lymphoproliferative disorders especially chronic lymphocytic leukaemia (CLL) but its role in adult B-ALL has not been established. On diagnostic s...

    Authors: Geothy Chakupurakal, Andrew Bell, Mike Griffiths, Farooq Wandroo and Paul Moss

    Citation: Molecular Cytogenetics 2012 5:22

    Content type: Short report

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  44. About 5-10 % of chronic myelogenous leukemia (CML) patients show variant Philadelphia (Ph) translocations. The formation mechanisms and clinical significance of variant Ph translocations remain unclear. We rep...

    Authors: Sho Yokota, Yuichi Nakamura and Masami Bessho

    Citation: Molecular Cytogenetics 2012 5:20

    Content type: Case report

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