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  1. Content type: Short report

    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...

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

    Citation: Molecular Cytogenetics 2017 10:6

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  2. Content type: Case Report

    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.

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

    Citation: Molecular Cytogenetics 2017 10:4

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  3. Content type: Research

    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...

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

    Citation: Molecular Cytogenetics 2017 10:2

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  4. Content type: Research

    Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and ...

    Authors: Harita Ghevaria, Roy Naja, Sioban SenGupta, Paul Serhal and Joy Delhanty

    Citation: Molecular Cytogenetics 2017 10:1

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  5. Content type: Case Report

    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...

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

    Citation: Molecular Cytogenetics 2016 9:91

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  6. Content type: Case Report

    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.

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

    Citation: Molecular Cytogenetics 2016 9:89

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  7. Content type: Research

    The JNK inhibitor SP600125 strongly inhibits cell proliferation in many human cancer cells by blocking mitosis progression and inducing cell death. Despite, all this study, the mechanism by which SP600125 inhi...

    Authors: Donia Mili, Kaouthar Abid, Imed Rjiba and Abderraouf Kenani

    Citation: Molecular Cytogenetics 2016 9:86

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  8. Content type: 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...

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

    Citation: Molecular Cytogenetics 2016 9:87

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  9. Content type: Review

    Oral cancer is one of the most common malignant lesions of the head and neck. This cancer is an aggressive and lethal disease with no significant improvements in the overall survival in the last decades. Moreo...

    Authors: Ilda Patrícia Ribeiro, Leonor Barroso, Francisco Marques, Joana Barbosa Melo and Isabel Marques Carreira

    Citation: Molecular Cytogenetics 2016 9:85

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  10. Content type: Letter to Editor

    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...

    Authors: Cesar Borjas-Gutierrez and Juan Ramon Gonzalez-Garcia

    Citation: Molecular Cytogenetics 2016 9:83

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  11. Content type: Research

    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...

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

    Citation: Molecular Cytogenetics 2016 9:84

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  12. Content type: Research

    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...

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

    Citation: Molecular Cytogenetics 2016 9:82

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  13. Content type: Case Report

    Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap c...

    Authors: Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, Susanna Esposito and Donatella Milani

    Citation: Molecular Cytogenetics 2016 9:80

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  14. Content type: Research

    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...

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

    Citation: Molecular Cytogenetics 2016 9:79

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  15. Content type: Case Report

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

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

    Citation: Molecular Cytogenetics 2016 9:78

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  16. Content type: Case Report

    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...

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

    Citation: Molecular Cytogenetics 2016 9:77

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  17. Content type: Case Report

    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...

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

    Citation: Molecular Cytogenetics 2016 9:75

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  18. Content type: Case Report

    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...

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

    Citation: Molecular Cytogenetics 2016 9:74

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  19. Content type: Hypothesis

    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...

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

    Citation: Molecular Cytogenetics 2016 9:73

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  20. Content type: Research

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

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

    Citation: Molecular Cytogenetics 2016 9:71

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  21. Content type: Research

    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...

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

    Citation: Molecular Cytogenetics 2016 9:70

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  22. Content type: Research

    Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (...

    Authors: Malgorzata I. Srebniak, Merel C. de Wit, Karin E. M. Diderich, Lutgarde C. P. Govaerts, Marieke Joosten, Maarten F. C. M. Knapen, Marnix J. Bos, Gerda A. G. Looye-Bruinsma, Mieke Koningen, Attie T. J. I. Go, Robert Jan H. Galjaard and Diane Van Opstal

    Citation: Molecular Cytogenetics 2016 9:69

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  23. Content type: Case Report

    Although Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are usually not aggressive, the type and the number of molecular lesions impact greatly on leukemic transformation. Indeed, the molecular ba...

    Authors: Tiziana Pierini, Danika Di Giacomo, Valentina Pierini, Paolo Gorello, Gianluca Barba, Anair Graciela Lema Fernandez, Fabrizia Pellanera, Tamara Iannotti, Franca Falzetti, Roberta La Starza and Cristina Mecucci

    Citation: Molecular Cytogenetics 2016 9:68

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  24. Content type: Case Report

    Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X...

    Authors: Lenka Pavlistova, Silvia Izakova, Zuzana Zemanova, Lucie Bartuskova, Martina Langova, Pavlina Malikova and Kyra Michalova

    Citation: Molecular Cytogenetics 2016 9:67

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  25. Content type: Case Report

    Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases hav...

    Authors: Shujie Zhang, Haisong Qin, Jin Wang, Luping OuYang, Shiyu Luo, Chunyun Fu, Xin Fan, Jiasun Su, Rongyu Chen, Bobo Xie, Xuyun Hu, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:66

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  26. Content type: Methodology

    Cytogenetic abnormalities are important prognostic markers in plasma cell myeloma (PCM) and detection is routinely performed by interphase fluorescence in-situ hybridization (FISH) with a panel of probes after...

    Authors: Edmond S. K. Ma, Candy L. N. Wang, Anthony T. C. Wong, Gigi Choy and Tsun Leung Chan

    Citation: Molecular Cytogenetics 2016 9:63

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  27. Content type: Research

    Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneup...

    Authors: I. R. Hussein, A. Magbooli, E. Huwait, A. Chaudhary, R. Bader, M. Gari, F. Ashgan, M. Alquaiti, A. Abuzenadah and M. AlQahtani

    Citation: Molecular Cytogenetics 2016 9:65

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  28. Content type: Letter to Editor

    Chromosomal microarray analysis (CMA) has been recommended and practiced routinely in the large reference laboratories of U.S.A. as the first-tier test for the postnatal evaluation of individuals with intellec...

    Authors: Jia-Chi Wang and Fatih Z. Boyar

    Citation: Molecular Cytogenetics 2016 9:64

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  29. Content type: Research

    Marker chromosomes are small supernumerary chromosomes that cannot be unambiguously identified by chromosome banding techniques alone. However, the precise characterization of marker chromosomes is important f...

    Authors: Woori Jang, Hyojin Chae, Jiyeon Kim, Jung-Ok Son, Seok Chan Kim, Bo Kyung Koo, Myungshin Kim, Yonggoo Kim, In Yang Park and In Kyung Sung

    Citation: Molecular Cytogenetics 2016 9:61

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  30. Content type: Research

    Sex chromosome loss (SCL), including loss of an X chromosome (-X) in females and loss of the Y chromosome (-Y) in males, resulting in a karyotype of 45,X, rarely occurs in patients post an allogeneic hematopoi...

    Authors: Zhenya Tang, L. Jeffrey Medeiros, C. Cameron Yin, Wei Wang, Xinyan Lu, Ken H. Young, Joseph D. Khoury and Guilin Tang

    Citation: Molecular Cytogenetics 2016 9:62

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  31. Content type: Hypothesis

    Chromosome counting is a process in which cells determine somehow their intrinsic chromosome number(s). The best-studied cellular mechanism that involves chromosome counting is ‘chromosome-kissing’ and X-chrom...

    Authors: Martina Rinčić, Ivan Y. Iourov and Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:56

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  32. Content type: Case Report

    Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental m...

    Authors: Nicoletta Villa, Agnese Scatigno, Serena Redaelli, Donatella Conconi, Paola Cianci, Clotilde Farina, Chiara Fossati, Leda Dalprà, Silvia Maitz and Angelo Selicorni

    Citation: Molecular Cytogenetics 2016 9:60

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  33. Content type: Short report

    The low-numbered 14-chromosome karyotype of marsupials has falsified the fusion hypothesis claiming ancestrality from a 22-chromosome karyotype. Since the 14-chromosome condition of the relict Dromiciops gliroide...

    Authors: Elkin Y. Suárez-Villota, Ronie E. Haro, Rodrigo A. Vargas and Milton H. Gallardo

    Citation: Molecular Cytogenetics 2016 9:59

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  34. Content type: Case Report

    FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinica...

    Authors: H. Fryssira, E. Tsoutsou, S. Psoni, S. Amenta, T. Liehr, E. Anastasakis, Ch Skentou, A. Ntouflia, I. Papoulidis, E. Manolakos and N. Chaliasos

    Citation: Molecular Cytogenetics 2016 9:55

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  35. Content type: Case Report

    Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, ...

    Authors: Haiming Yuan, Zhe Meng, Liping Liu, Xiaoyan Deng, Xizi Hu and Liyang Liang

    Citation: Molecular Cytogenetics 2016 9:58

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  36. Content type: Research

    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, or the congenital absence of uterus and vagina, is the most severe anomaly of the female reproductive tract. It affects 1 in 5,000 females, and is the second mos...

    Authors: Lacey S. Williams, Hyung-Goo Kim, Vera M. Kalscheuer, J. Matthew Tuck, Lynn P. Chorich, Megan E. Sullivan, Allison Falkenstrom, Richard H. Reindollar and Lawrence C. Layman

    Citation: Molecular Cytogenetics 2016 9:57

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  37. Content type: Case Report

    Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur e...

    Authors: Jing Liu, Hao Hu, Na Ma, Zhengjun Jia, Yuchun Zhou, Jiancheng Hu and Hua Wang

    Citation: Molecular Cytogenetics 2016 9:54

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  38. Content type: Erratum

    Authors: Juliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Gaona Oliveira-Gennaro, Filipe Brum Machado, Enrique Medina-Acosta, Ester Silveira Ramos, Maisa Yoshimoto and Lucia Martelli

    Citation: Molecular Cytogenetics 2016 9:53

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    The original article was published in Molecular Cytogenetics 2016 9:45

  39. Content type: Short report

    Despite progression in treatment of gastric cancer, prognosis of patients remains poor, in part due to the low rate of diagnosis during its early stages. This paradigm implies the necessity to identify molecul...

    Authors: T. M. Araújo, A. D. Seabra, E. M. Lima, P. P. Assumpção, R. C. Montenegro, S. Demachki, R. M. Burbano and A. S. Khayat

    Citation: Molecular Cytogenetics 2016 9:52

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  40. Content type: Case Report

    The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of th...

    Authors: Chunyang Li, Chunxue Liu, Bingrui Zhou, Chunchun Hu and Xiu Xu

    Citation: Molecular Cytogenetics 2016 9:51

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  41. Content type: Case Report

    BCR-ABL1 fusion proteins contain constitutively active tyrosine kinases that are potential candidates for targeted therapy with tyrosine kinase inhibitors such as imatinib in chronic m...

    Authors: Xiaodong Lyu, Jingke Yang, Xianwei Wang, Jieying Hu, Bing Liu, Yu Zhao, Zhen Guo, Bingshan Liu, Ruihua Fan and Yongping Song

    Citation: Molecular Cytogenetics 2016 9:47

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  42. Content type: Research

    During the final stages of oocyte development, all chromosomes join in a limited nuclear volume for the final formation of a single complex chromatin structure – the karyosphere. In the majority of mammalian s...

    Authors: Galina N. Pochukalina, Nadya V. Ilicheva, Olga I. Podgornaya and Alexey P. Voronin

    Citation: Molecular Cytogenetics 2016 9:50

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  43. Content type: Research

    Micronucleus (MN) assay is a well standardized approach for evaluation of clastogenic/aneugenic effects of mutagens. Fluorescence in situ hybridization (FISH) is successfully used to characterize the chromosom...

    Authors: Galina Hovhannisyan, Rouben Aroutiounian, Nelly Babayan, Tigran Harutyunyan and Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:49

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