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  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Case Report

    12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments

    Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also...

    Marcio Leyser, Bruno Leonardo Dias, Ana Luiza Coelho, Marcio Vasconcelos and Osvaldo J. M. Nascimento

    Molecular Cytogenetics 2016 9:75

    Published on: 4 October 2016

  12. Case Report

    The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

    1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysm...

    Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim and Hyung-Goo Kim

    Molecular Cytogenetics 2016 9:74

    Published on: 29 September 2016

  13. Hypothesis

    New insights of karyoevolution in the Amazonian turtles Podocnemis expansa and Podocnemis unifilis (Testudines, Podocnemidae)

    Cytogenetic studies were conducted in the Brazilian Amazon turtles, Podocnemis expansa Schweigger, 1912 (PEX) and Podocnemis unifilis Troschel, 1848 (PUN) to understand their karyoevolution. Their chromosomal com...

    R. C. R. Noronha, L. M. R. Barros, R. E. F. Araújo, D. F. Marques, C. Y. Nagamachi, C. Martins and J. C. Pieczarka

    Molecular Cytogenetics 2016 9:73

    Published on: 27 September 2016

  14. Research

    19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

    Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly.

    Hai-Yun Dong, Hui Zeng, Yi-Qiao Hu, Li Xie, Jian Wang, Xiu-Ying Wang, Yi-Feng Yang and Zhi-Ping Tan

    Molecular Cytogenetics 2016 9:71

    Published on: 22 September 2016

  15. Research

    First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease

    Fanconi anemia (FA) is a chromosomal instability syndrome characterized by increased frequency of chromosomal breakages, chromosomal radial figures and accelerated telomere shortening. In this work we performe...

    Jelena Filipović, Gordana Joksić, Dragana Vujić, Ivana Joksić, Kristin Mrasek, Anja Weise and Thomas Liehr

    Molecular Cytogenetics 2016 9:70

    Published on: 13 September 2016

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