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  1. Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacenta...

    Authors: Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A. Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang and Ming Chen

    Citation: Molecular Cytogenetics 2017 10:44

    Content type: Methodology

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  2. Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome.

    Authors: Alena S. Telepova, Svetlana A. Romanenko, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin

    Citation: Molecular Cytogenetics 2017 10:43

    Content type: Case Report

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  3. Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of f...

    Authors: Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria del Castillo and Sara Frías

    Citation: Molecular Cytogenetics 2017 10:42

    Content type: Case Report

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  4. The oocyte chromosomes of the red flour beetle, Tribolium castaneum, are gathered into a knot, forming a karyosphere at the diplotene stage of meiotic prophase. Chromatin rearrangement, which is a characteristic ...

    Authors: Artem M. Kiselev, Irina S. Stepanova, Leonid S. Adonin, Florina M. Batalova, Vladimir N. Parfenov, Dmitry S. Bogolyubov and Olga I. Podgornaya

    Citation: Molecular Cytogenetics 2017 10:41

    Content type: Research

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  5. The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolution...

    Authors: Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY and Aihua Yin

    Citation: Molecular Cytogenetics 2017 10:40

    Content type: Case Report

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  6. ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthe...

    Authors: Rima Koka, Najeebah A. Bade, Edward A. Sausville, Yi Ning and Ying Zou

    Citation: Molecular Cytogenetics 2017 10:39

    Content type: Case Report

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  7. Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the...

    Authors: Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B. H. Al-Rikabi, Krati Shah, Jayesh Sheth and Frenny Sheth

    Citation: Molecular Cytogenetics 2017 10:38

    Content type: Case Report

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  8. Species belonging to the Sciaenidae family present a karyotype composed by 48 acrocentric chromosomes and are thus considered a striking example of chromosomal conservation. In this family, three species are e...

    Authors: Dongdong Xu, Wagner Franco Molina, Cassia Fernanda Yano, Yurong Zhang, Ezequiel Aguiar de Oliveira, Bao Lou and Marcelo de Bello Cioffi

    Citation: Molecular Cytogenetics 2017 10:37

    Content type: Research

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  9. Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of S...

    Authors: Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang and Yiping Shen

    Citation: Molecular Cytogenetics 2017 10:36

    Content type: Case Report

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  10. Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is cons...

    Authors: Daiane Correa de Souza, Amanda Faria de Figueiredo, Daniela R. Ney Garcia, Elaine Sobral da Costa, Moneeb A.K. Othman, Thomas Liehr, Eliana Abdelhay, Maria Luiza Macedo Silva and Teresa de Souza Fernandez

    Citation: Molecular Cytogenetics 2017 10:35

    Content type: Case Report

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  11. Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012)...

    Authors: Anna Poluha, Joanna Bernaciak, Ilona Jaszczuk, Marta Kędzior and Beata Anna Nowakowska

    Citation: Molecular Cytogenetics 2017 10:34

    Content type: Case Report

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  12. Homozygous mutations and deletions of the microcephalin gene (MCPH1; OMIM *607117) have been identified as a cause of autosomal recessive primary microcephaly and intellectual disability (MIM #251200). Previous s...

    Authors: Morteza Hemmat, Melissa J Rumple, Loretta W Mahon, Melanie Morrow, Tamara Zach, Arturo Anguiano, Mohamed M Elnaggar, Boris T Wang and Fatih Z Boyar

    Citation: Molecular Cytogenetics 2017 10:33

    Content type: Case Report

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  13. Whole exome sequencing (WES) has been widely accepted as a robust and cost-effective approach for clinical genetic testing of small sequence variants. Detection of copy number variants (CNV) within WES data ha...

    Authors: Ruen Yao, Cheng Zhang, Tingting Yu, Niu Li, Xuyun Hu, Xiumin Wang, Jian Wang and Yiping Shen

    Citation: Molecular Cytogenetics 2017 10:30

    Content type: Research

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  14. Carriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified...

    Authors: Darinka Šumanović-Glamuzina, Bernarda Lozić, Piotr S. Iwanowski, Tatijana Zemunik, Zeljka Bilinovac, Beata Stasiewicz-Jarocka, Barbara Panasiuk and Alina T. Midro

    Citation: Molecular Cytogenetics 2017 10:29

    Content type: Research

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  15. Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have...

    Authors: Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine and Thomas Eggermann

    Citation: Molecular Cytogenetics 2017 10:28

    Content type: Research

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  16. Genetic abnormalities, including chromosomal translocations, are described for many hematological malignancies. From the clinical perspective, detection of chromosomal abnormalities is relevant not only for di...

    Authors: Lydie Debaize, Hélène Jakobczyk, Anne-Gaëlle Rio, Virginie Gandemer and Marie-Bérengère Troadec

    Citation: Molecular Cytogenetics 2017 10:27

    Content type: Methodology

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  17. Our aim was to set the FISH combination of del(17p13), t(4;14), 1q21 gain and del(1p32), four adverse cytogenetic factors rarely evaluated together, and compare our technical thresholds with those defined in t...

    Authors: Thomas Smol, Annika Dufour, Sabine Tricot, Mathieu Wemeau, Laure Stalnikiewicz, Franck Bernardi, Christine Terré, Benoît Ducourneau, Hervé Bisiau and Agnès Daudignon

    Citation: Molecular Cytogenetics 2017 10:26

    Content type: Research

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  18. 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...

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

    Citation: Molecular Cytogenetics 2017 10:25

    Content type: Research

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  19. Authors: 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…

    Citation: Molecular Cytogenetics 2017 10(Suppl 2):21

    Content type: Meeting abstracts

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

  20. 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...

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

    Citation: Molecular Cytogenetics 2017 10:24

    Content type: Case Report

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  21. Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with ...

    Authors: Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang and Dongyi Yu

    Citation: Molecular Cytogenetics 2017 10:23

    Content type: Case Report

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  22. 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...

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

    Citation: Molecular Cytogenetics 2017 10:22

    Content type: Case Report

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  23. Chronic myelogenous leukemia (CML) is a pluripotent hematopoietic stem cell disorder caused by the fusion of the BCR and ABL1 genes. Quantitative RT-PCR (qRT-PCR) is a routinely performed screening technique to i...

    Authors: Fen Zhou, Runming Jin, Yu Hu and Heng Mei

    Citation: Molecular Cytogenetics 2017 10:19

    Content type: Short report

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  24. 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...

    Authors: Natalia V. Kovaleva and Philip D. Cotter

    Citation: Molecular Cytogenetics 2017 10:18

    Content type: Review

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

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

    Citation: Molecular Cytogenetics 2017 10:17

    Content type: Research

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  26. To assess the influence of molecular markers with potential prognostic value to groups of patients with newly diagnosed glioblastoma patients were examined: group A with 36 patients (surgical resection plus st...

    Authors: Steffi Urbschat, Christoph Sippl, Jana Engelhardt, Kai Kammers, Joachim Oertel and Ralf Ketter

    Citation: Molecular Cytogenetics 2017 10:16

    Content type: Research

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  27. 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)/...

    Authors: 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

    Citation: Molecular Cytogenetics 2017 10:15

    Content type: Case Report

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  28. 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...

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

    Citation: Molecular Cytogenetics 2017 10:14

    Content type: Research

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  29. 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...

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

    Citation: Molecular Cytogenetics 2017 10:13

    Content type: Case Report

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  30. 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....

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

    Citation: Molecular Cytogenetics 2017 10:12

    Content type: Methodology

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  31. 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 ...

    Authors: Robert M. Hoffman

    Citation: Molecular Cytogenetics 2017 10:11

    Content type: Review

    Published on:

    The Publisher Correction to this article has been published in Molecular Cytogenetics 2018 11:38

  32. 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...

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

    Citation: Molecular Cytogenetics 2017 10:10

    Content type: Case Report

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  33. 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...

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

    Citation: Molecular Cytogenetics 2017 10:9

    Content type: Case report

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  34. 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 ...

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

    Citation: Molecular Cytogenetics 2017 10:8

    Content type: Research

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  35. 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...

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

    Citation: Molecular Cytogenetics 2017 10:7

    Content type: Research

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  36. 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

    Content type: Short report

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  37. 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

    Content type: Case Report

    Published on:

  38. 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

    Content type: Research

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  39. 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

    Content type: Research

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  40. 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

    Content type: Case Report

    Published on:

  41. 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

    Content type: Case Report

    Published on:

  42. 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

    Content type: Case Report

    Published on:

  43. 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

    Content type: Research

    Published on:

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