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  1. Meeting abstracts

    Abstracts from the 3rd Conference on Aneuploidy and Cancer: Clinical and Experimental Aspects

    Athel Cornish-Bowden, Athel Cornish-Bowden, David Rasnick, Henry H. Heng, Steven Horne, Batoul Abdallah, Guo Liu, Christine J. Ye, Mathew Bloomfield, Mark D. Vincent, C. Marcelo Aldaz, Jenny Karlsson, Anders Valind, Caroline Jansson, David Gisselsson, Jennifer A. Marshall Graves…

    Molecular Cytogenetics 2017 10(Suppl 2):320

    Published on: 22 June 2017

    This article is part of a Supplement: Volume 10 Supplement 2

  2. Research

    Scattered genomic amplification in dedifferentiated liposarcoma

    Atypical lipomatous tumor (ALT), well differentiated liposarcoma (WDLS) and dedifferentiated liposarcoma (DDLS) are cytogenetically characterized by near-diploid karyotypes with no or few other aberrations tha...

    Nils Mandahl, Linda Magnusson, Jenny Nilsson, Björn Viklund, Elsa Arbajian, Fredrik Vult von Steyern, Anders Isaksson and Fredrik Mertens

    Molecular Cytogenetics 2017 10:25

    Published on: 24 June 2017

  3. Case Report

    Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review

    Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limit...

    Jie Hu, Zhishuo Ou, Elena Infante, Sally J. Kochmar, Suneeta Madan-Khetarpal, Lori Hoffner, Shafagh Parsazad and Urvashi Surti

    Molecular Cytogenetics 2017 10:24

    Published on: 19 June 2017

  4. Case Report

    A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning

    Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosom...

    N. Villa, D. Conconi, D. Gambel Benussi, G. Tornese, F. Crosti, E. Sala, L. Dalprà and V. Pecile

    Molecular Cytogenetics 2017 10:22

    Published on: 13 June 2017

  5. Review

    Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions

    Mosaicism for an autosomal structural rearrangement (Rea) associated with clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of basic epidemiological characterization of thi...

    Natalia V. Kovaleva and Philip D. Cotter

    Molecular Cytogenetics 2017 10:18

    Published on: 19 May 2017

  6. Research

    Clinicohematological and cytogenetic profile of myelodysplastic syndromes in Pakistan-compare and contrast

    Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory...

    Nida Anwar, Aisha Arshad, Muhammad Nadeem, Sana Khurram, Naveena Fatima, Sumaira Sharif, Saira Shan and Tahir Shamsi

    Molecular Cytogenetics 2017 10:17

    Published on: 8 May 2017

  7. Case Report

    A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

    Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/...

    Tomohiro Kohmoto, Nana Okamoto, Takuya Naruto, Chie Murata, Yuya Ouchi, Naoko Fujita, Hidehito Inagaki, Shigeko Satomura, Nobuhiko Okamoto, Masako Saito, Kiyoshi Masuda, Hiroki Kurahashi and Issei Imoto

    Molecular Cytogenetics 2017 10:15

    Published on: 28 April 2017

  8. Research

    Identification of mosaic and segmental aneuploidies by next-generation sequencing in preimplantation genetic screening can improve clinical outcomes compared to array-comparative genomic hybridization

    Chromosomal mosaicism is observed as the presence of both euploid and aneuploid cells in a particular blastocyst. Recent studies have reported that the implantation rate of mosaic embryo transfer is remarkably...

    Hsing-Hua Lai, Tzu-Hsuan Chuang, Lin-Kin Wong, Meng-Ju Lee, Chia-Lin Hsieh, Huai-Lin Wang and Shee-Uan Chen

    Molecular Cytogenetics 2017 10:14

    Published on: 26 April 2017

  9. Case Report

    Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor

    The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by the treatment of the first tumor, an...

    Ilda P. Ribeiro, Francisco Marques, Leonor Barroso, Jorge Miguéis, Francisco Caramelo, André Santos, Maria J. Julião, Joana B. Melo and Isabel M. Carreira

    Molecular Cytogenetics 2017 10:13

    Published on: 11 April 2017

  10. Methodology

    Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data

    Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb....

    Celia Donaghue, Nada Davies, Joo Wook Ahn, Helen Thomas, Caroline Mackie Ogilvie and Kathy Mann

    Molecular Cytogenetics 2017 10:12

    Published on: 5 April 2017

  11. Review

    Is DNA methylation the new guardian of the genome?

    It has been known for more than 100 years that aneuploidy is an essence of cancer. The question is what keeps the genome stable, thereby preventing aneuploidy. For the past 25 years, it has been proposed that ...

    Robert M. Hoffman

    Molecular Cytogenetics 2017 10:11

    Published on: 4 April 2017

  12. Research

    Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing

    Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the DMD gene. The aim of this study was to identify a de novo mutation of the DMD gene in the family of a ...

    Beibei Wu, Liying Wang, Ting Dong, Jiahui Jin, Yili Lu, Huiping Wu, Yue Luo and Xiaoou Shan

    Molecular Cytogenetics 2017 10:8

    Published on: 23 March 2017

  13. Case report

    Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome

    Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here...

    Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden and Isabella Borg

    Molecular Cytogenetics 2017 10:9

    Published on: 23 March 2017

  14. Case Report

    Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features

    The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo s...

    Lana Stavber, Sara Bertok, Jernej Kovač, Marija Volk, Luca Lovrečić, Tadej Battelino and Tinka Hovnik

    Molecular Cytogenetics 2017 10:10

    Published on: 23 March 2017

  15. Research

    Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma

    Rarity and heterogeneity of liposarcomas (LPS) make their diagnosis difficult even for sarcoma-experts pathologists. The molecular mechanism underlying the development and progression of liposarcomas (LPS) rem...

    Magdalena Koczkowska, Beata Stefania Lipska-Ziętkiewicz, Mariola Iliszko, Janusz Ryś, Markku Miettinen, Jerzy Lasota, Wojciech Biernat, Agnieszka Harazin-Lechowska, Anna Kruczak and Janusz Limon

    Molecular Cytogenetics 2017 10:7

    Published on: 16 March 2017

  16. Short report

    Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples

    The 22q11.2 deletion syndrome is the most common microdeletion syndrome in livebirths, but data regarding its incidence in other populations is limited and also include ascertainment bias. This study was desig...

    Melissa K. Maisenbacher, Katrina Merrion, Barbara Pettersen, Michael Young, Kiyoung Paik, Sushma Iyengar, Stephanie Kareht, Styrmir Sigurjonsson, Zachary P. Demko and Kimberly A. Martin

    Molecular Cytogenetics 2017 10:6

    Published on: 9 March 2017

  17. Case Report

    Multiple MYO18A-PDGFRB fusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11)

    Myeloproliferative neoplasms (MPNs), typically defined by myeloid proliferation and eosinophilia, and are only rarely caused by platelet-derived growth factor receptor beta (PDGFRB) gene rearrangements.

    Guangying Sheng, Zhao Zeng, Jinlan Pan, Linbing Kou, Qinrong Wang, Hong Yao, Lijun Wen, Liang Ma, Depei Wu, Huiying Qiu and Suning Chen

    Molecular Cytogenetics 2017 10:4

    Published on: 27 February 2017

  18. Research

    MLPA analysis in a cohort of patients with autism

    Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an importan...

    Sara Peixoto, Joana B. Melo, José Ferrão, Luís M. Pires, Nuno Lavoura, Marta Pinto, Guiomar Oliveira and Isabel M. Carreira

    Molecular Cytogenetics 2017 10:2

    Published on: 4 February 2017

  19. Case Report

    A high complex karyotype involving eleven chromosomes including three novel chromosomal aberrations and monoallelic loss of TP53 in case of follicular lymphoma transformed into B-cell lymphoblastic leukemia

    Follicular lymphoma (FL) is one of the most common B-cell non-Hodgkin’s lymphoma (NHL). A subset of FL cases transform into more aggressive malignancies, most often to diffuse large B-cell lymphoma (DLBCL); in...

    Abdulsamad Wafa, Faten Moassass, Thomas Liehr, Samarth Bhatt, Abdulmunim Aljapawe and Walid Al Achkar

    Molecular Cytogenetics 2016 9:91

    Published on: 20 December 2016

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