Articles

Sort by
Previous Page Page 1 of 30 Next Page
  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. Case Report

    A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

    Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5–431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy.

    Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza and Mauro Bozzola

    Molecular Cytogenetics 2016 9:89

    Published on: 3 December 2016

  10. Case Report

    Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report

    Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosom...

    Bárbara Marques, Cristina Ferreira, Filomena Brito, Sónia Pedro, Cristina Alves, Teresa Lourenço, Marta Amorim and Hildeberto Correia

    Molecular Cytogenetics 2016 9:87

    Published on: 25 November 2016

  11. Research

    Coexistence of iAMP21 and ETV6-RUNX1 fusion in an adolescent with B cell acute lymphoblastic leukemia: literature review of six additional cases

    Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases as...

    Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P. Patel, L. Jeffrey Medeiros, Pei Lin and Xinyan Lu

    Molecular Cytogenetics 2016 9:84

    Published on: 21 November 2016

  12. Letter to Editor

    Philadelphia chromosome duplication as a ring-shaped chromosome

    The gain of a second copy of the Philadelphia chromosome is one of the main secondary chromosomal changes related to the clonal evolution of cells with t(9;22) in chronic myelogenous leukemia. This gain causes...

    Cesar Borjas-Gutierrez and Juan Ramon Gonzalez-Garcia

    Molecular Cytogenetics 2016 9:83

    Published on: 21 November 2016

  13. Research

    Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

    High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions we...

    Jia-Chi Wang, Loretta W. Mahon, Leslie P. Ross, Arturo Anguiano, Renius Owen and Fatih Z. Boyar

    Molecular Cytogenetics 2016 9:82

    Published on: 15 November 2016

  14. Research

    Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures

    Spontaneous abortion (SA) is the most common complication of pregnancy, and chromosome aberrations are the principal cause of the first trimester abortuses in natural conception (NC) The increasing use of assi...

    Tonghua Wu, Biao Yin, Yuanchang Zhu, Guangui Li, Lijun Ye, Chunmei Chen, Yong Zeng and Desheng Liang

    Molecular Cytogenetics 2016 9:79

    Published on: 12 October 2016

  15. Case Report

    Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

    Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype.

    Elisa Tassano, Mariasavina Severino, Silvia Rosina, Riccardo Papa, Domenico Tortora, Giorgio Gimelli, Cristina Cuoco and Paolo Picco

    Molecular Cytogenetics 2016 9:78

    Published on: 10 October 2016

  16. Case Report

    Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities

    Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysm...

    Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Vassilis Paspaliaris, Christina Zerva, Panagiotis Chatzis, Loretta Thomaidis, Emmanouil Manolakos and Ioannis Papoulidis

    Molecular Cytogenetics 2016 9:77

    Published on: 6 October 2016

Previous Page Page 1 of 30 Next Page