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  1. The OncoScan microarray assay (OMA) using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP) loci enabled the detection of cytogenomic abnormalities of chromosomal imbalance...

    Authors: Jiadi Wen, Brittany Grommisch, Autumn DiAdamo, Hongyan Chai, Sok Meng Evelyn Ng, Pei Hui, Allen Bale, Winifred Mak, Guilin Wang and Peining Li

    Citation: Molecular Cytogenetics 2021 14:21

    Content type: Research

    Published on:

  2. The Genome Reference Consortium (GRC) has according to its own statement the “mission to improve the human reference genome assembly, correcting errors and adding sequence to ensure it provides the best repres...

    Authors: Thomas Liehr

    Citation: Molecular Cytogenetics 2021 14:20

    Content type: Commentary

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  3. The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This stud...

    Authors: Lili Zhou, Zhaoke Zheng, Yunzhi Xu, Xiaoxiao Lv, Chenyang Xu and Xueqin Xu

    Citation: Molecular Cytogenetics 2021 14:19

    Content type: Research

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  4. Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.

    Authors: Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek, Krystyna Jakubów-Durska, Joris Robert Vermeesch and Beata Anna Nowakowska

    Citation: Molecular Cytogenetics 2021 14:18

    Content type: Case Report

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  5. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Emanuele G. Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink, Hendrik Langen and Joachim Riedel

    Citation: Molecular Cytogenetics 2021 14:17

    Content type: Correction

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    The original article was published in Molecular Cytogenetics 2016 9:10

  6. Although, molecular genetic analyses became more and more important to guide therapy decisions in leukemia, banding cytogenetic analysis has retained its vital role in diagnosis and monitoring of chronic myelo...

    Authors: Ahmed Maseh Haidary, Zeeshan Ansar Ahmed, Jamshid Abdul-Ghafar, Soma Rahmani, Sarah Noor, Farahnaz Erfani, Maryam Ahmad, Naeem Lakanwall, Haider Ali Malakzai, Abdul Sami Ibrahimkhil, Esmatullah Esmat, Mujtaba Haidari, Nimattullah Yousufzai, Samuel Sharif and Abdul Hadi Saqib

    Citation: Molecular Cytogenetics 2021 14:16

    Content type: Case Report

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  7. Partial amphiploids created by crossing octoploid tritelytrigia(2n = 8× = 56, AABBDDEE) and Thinopyrum intermedium (2n = 6× = 42, StStJJJSJS) are important intermediates in wheat breeding because of their resista...

    Authors: Hui Wang, Shuwei Cheng, Yue Shi, Shuxin Zhang, Wei Yan, Weifu Song, Xuefeng Yang, Qingjie Song, Bo Jang, Xiaoyue Qi, Xinling Li, Bernd Friebe and Yanming Zhang

    Citation: Molecular Cytogenetics 2021 14:15

    Content type: Research

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  8. Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. ...

    Authors: Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai and Jie Chen

    Citation: Molecular Cytogenetics 2021 14:14

    Content type: Research

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  9. Small supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype. They may derive from each of the 24 human chromosomes...

    Authors: Thomas Liehr, Heather E. Williams, Monika Ziegler, Stefanie Kankel, Niklas Padutsch and Ahmed Al-Rikabi

    Citation: Molecular Cytogenetics 2021 14:13

    Content type: Research

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  10. Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we car...

    Authors: Khouloud Rjiba, Hédia Ayech, Olfa Kraiem, Wafa Slimani, Afef Jelloul, Imen Ben Hadj Hmida, Nabiha Mahdhaoui, Ali Saad and Soumaya Mougou-Zerelli

    Citation: Molecular Cytogenetics 2021 14:12

    Content type: Research

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  11. Chinese hamster ovary cell lines, also known as CHO cells, represent a large family of related, yet quite different, cell lines which are metabolic mutants derived from the original cell line, CHO-ori. Dihydro...

    Authors: Victoria I. Turilova, Tatyana S. Goryachaya and Tatiana K. Yakovleva

    Citation: Molecular Cytogenetics 2021 14:11

    Content type: Research

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  12. Mixed phenotype acute leukemia (MPAL) is an uncommon type of leukemia. It is one kind of malignant clonal diseases that expresses more than one genealogical specific antigen simultaneously. Most MPAL patients ...

    Authors: Xiaolong Zheng, Huafei Shen, Mingyu Zhu, Yuanfei Shi, Huanping Wang, Zhimei Chen, Xin Huang, Yungui Wang, Jie Jin and Wanzhuo Xie

    Citation: Molecular Cytogenetics 2021 14:10

    Content type: Case Report

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  13. Turner’s syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner’s syndrome mosaici...

    Authors: Svetlana G. Vorsanova, Alexey D. Kolotii, Oksana S. Kurinnaia, Victor S. Kravets, Irina A. Demidova, Ilya V. Soloviev, Yuri B. Yurov and Ivan Y. Iourov

    Citation: Molecular Cytogenetics 2021 14:9

    Content type: Research

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  14. Mantle cell lymphoma (MCL) is derived from naïve CD5+ B-cells with the cytogenetic hallmark translocation 11;14. The presence of additional abnormalities is associated with blastoid variants in MCL (BMCL) and ...

    Authors: Veronica Ortega, Christina Mendiola, Juana Rodriguez, William Ehman Jr., You-Wen Qian and Gopalrao Velagaleti

    Citation: Molecular Cytogenetics 2021 14:8

    Content type: Case Report

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  15. Breast cancer (BC), one of the most frequent human tumors, is genetically and histologically heterogeneous. Treatment options can be adapted according to BC subtype. Still, research is necessary to characteriz...

    Authors: Shaymaa Azawi, Martina Rincic and Thomas Liehr

    Citation: Molecular Cytogenetics 2021 14:7

    Content type: Research

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  16. Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044% in newborns that increases up to almost 7 times in developmentally reta...

    Authors: Eleonora Marchina, Michela Forti, Mariella Tonelli, Stefania Maccarini, Francesca Malvestiti, Chiara Piantoni, Elena Filippini, Elisa Fazzi and Giuseppe Borsani

    Citation: Molecular Cytogenetics 2021 14:6

    Content type: Case Report

    Published on:

  17. Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was ...

    Authors: Xinyue Zhang, Fagui Yue, Qingyang Shi, Yuting Jiang, Jing He, Leilei Li and Ruizhi Liu

    Citation: Molecular Cytogenetics 2021 14:5

    Content type: Case Report

    Published on:

  18. Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This s...

    Authors: Malgorzata Ilona Srebniak, Maarten F. C. M. Knapen, Marieke Joosten, Karin E. M. Diderich, Sander Galjaard and Diane Van Opstal

    Citation: Molecular Cytogenetics 2021 14:4

    Content type: Hypothesis

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  20. Deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it ...

    Authors: Beyhan Durak Aras, Sevgi Isik, Hava Uskudar Teke, Abdulvahap Aslan, Filiz Yavasoglu, Zafer Gulbas, Fatih Demirkan, Hulya Ozen, Oguz Cilingir, Nur Sena Inci, Gulcin Gunden, Tuba Bulduk, Ebru Erzurumluoglu Gokalp, Sinem Kocagil, Sevilhan Artan and Olga Meltem Akay

    Citation: Molecular Cytogenetics 2021 14:2

    Content type: Research

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  21. To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in po...

    Authors: Xinran Lu, Chaohong Wang, Yuxiu Sun, Junxiang Tang, Keting Tong and Jiansheng Zhu

    Citation: Molecular Cytogenetics 2021 14:1

    Content type: Research

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  22. Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance. To the best of our knowledge, this is the first reporte...

    Authors: Max Winerdal, Eini Westenius, Michaela Granfors, Maria Pettersson and Erik Iwarsson

    Citation: Molecular Cytogenetics 2020 13:51

    Content type: Case Report

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  23. The U937 cell line is widely employed as a research tool. It has a complex karyotype. A PICALM-MLLT10 fusion gene formed by the recurrent t(10;11) translocation is present, and the myeloid common deleted region a...

    Authors: Ruth N. MacKinnon, Joanne Peverall, Lynda J. Campbell and Meaghan Wall

    Citation: Molecular Cytogenetics 2020 13:50

    Content type: Research

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  25. Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in human...

    Authors: Li Gao, Junyu Zhang, Xu Han, Wenjing Hu, Jinling Sun, Yuru Tan, Xinrong Zhao, Renyi Hua, Shan Wang, Yan Zhang, Yanlin Wang and Yi Wu

    Citation: Molecular Cytogenetics 2020 13:48

    Content type: Case Report

    Published on:

  26. Poa L. is a large genus of grass in Gramineae, among which P. pratensis is widely cultivated as turf and forage. Satellite DNA is the main components of the plant genome. Information of satellites will helpful fo...

    Authors: Linna Wei, Bo Liu, Chunping Zhang, Yang Yu, Xiaoxia Yang, Quanwen Dou and Quanmin Dong

    Citation: Molecular Cytogenetics 2020 13:47

    Content type: Research

    Published on:

  27. Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who pr...

    Authors: Paola E. Leone, Verónica Yumiceba, Ariana Jijón-Vergara, Andy Pérez-Villa, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Santiago Guerrero, Patricia Guevara-Ramírez, Andrés López-Cortés, Ana K. Zambrano, Jesús M. Hernández-Rivas, Juan Luis García and César Paz-y-Miño

    Citation: Molecular Cytogenetics 2020 13:46

    Content type: Case Report

    Published on:

  28. Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad sp...

    Authors: Abul Kalam Azad, Lindsay Yanakakis, Samantha Issleb, Jessica Turina, Kelli Drabik, Christina Bonner, Eve Simi, Andrew Wagner, Morry Fiddler and Rizwan Naeem

    Citation: Molecular Cytogenetics 2020 13:45

    Content type: Case Report

    Published on:

  29. B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL case...

    Authors: Abdulsamad Wafa, Rami A. Jarjour, Doaa Alolabi, Thomas Liehr, Othman Hamdan, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar

    Citation: Molecular Cytogenetics 2020 13:44

    Content type: Case Report

    Published on:

  31. Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial featur...

    Authors: Emiy Yokoyama, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina and Sara Frias

    Citation: Molecular Cytogenetics 2020 13:42

    Content type: Case Report

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  32. Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia (AML). The cytogenetic analysis of bone marrow complements t...

    Authors: Sinhue Alejandro Brukman-Jimenez, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, Pablo Alejandro Chávez-Panduro, Citlalli Ortega-de-la-Torre, Uriel Francisco Santana-Bejarano, Elizabeth Torres-Anguiano, Lucero Mendoza-Maldonado, Fernando Antonio Sánchez-Zubieta and Alfredo Corona-Rivera

    Citation: Molecular Cytogenetics 2020 13:41

    Content type: Case Report

    Published on:

  33. The FOXG1 gene plays a vital role in mammalian brain differentiation and development. Intra- and intergenic mutations resulting in loss of function or altered expression of the FOXG1 gene cause FOXG1 syndrome. Th...

    Authors: Connor P. Craig, Emily Calamaro, Chin-To Fong, Anwar M. Iqbal, Alexander R. Paciorkowski and Bin Zhang

    Citation: Molecular Cytogenetics 2020 13:40

    Content type: Case Report

    Published on:

  35. The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis. This study aimed to evaluate 118 fetuses with CFMs by applying chrom...

    Authors: Chenyang Xu, Yanbao Xiang, Xueqin Xu, Lili Zhou, Huanzheng Li, Xueqin Dong and Shaohua Tang

    Citation: Molecular Cytogenetics 2020 13:38

    Content type: Research

    Published on:

  36. Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diag...

    Authors: Meng Liu, Yuan Ren, Xianfu Wang, Xianglan Lu, Ming Li, Young Mi Kim, Shibo Li and Lijun Zhang

    Citation: Molecular Cytogenetics 2020 13:37

    Content type: Research

    Published on:

  37. We presented two cases of mosaic trisomy 2 with high risk of maternal serum screening and non-invasive prenatal testing (NIPT). The invasive amniocentesis was performed and genetic tests including karyotype, s...

    Authors: Ting Wang, Jufei Lian, Congmian Ren, Huamei Huang, Yanlin Huang, Ling Xu, Laiping Zheng, Chanhui Cai and Li Guo

    Citation: Molecular Cytogenetics 2020 13:36

    Content type: Research

    Published on:

  38. Nijmegen breakage syndrome (NBS) is a rare genetic disorder inherited in an autosomal recessive pattern associated with an increased risk of developing lymphoproliferative disorders, mainly non-Hodgkin lymphom...

    Authors: Monika Włodarczyk and Monika Lejman

    Citation: Molecular Cytogenetics 2020 13:35

    Content type: Case Report

    Published on:

  39. Progression of chronic myelogenous leukemia (CML) is frequently accompanied by cytogenetic evolution. Additional genetic abnormalities are seen in 10–20% of CML cases at the time of diagnosis, and in 60–80% of...

    Authors: Jin-Ying Gong, Zhen-Hao Zhang, Wei Zhang, Hui-Jun Wang, Xiao-Fang Feng, Ji Zhou and Guo-Qing Zhu

    Citation: Molecular Cytogenetics 2020 13:34

    Content type: Short report

    Published on:

  40. Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bo...

    Authors: Anna Repczynska, Agata Pastorczak, Katarzyna Babol-Pokora, Jolanta Skalska-Sadowska, Malgorzata Drozniewska, Wojciech Mlynarski and Olga Haus

    Citation: Molecular Cytogenetics 2020 13:33

    Content type: Case Report

    Published on:

  41. The epigenetic regulation of genome is crucial for implementation of the genetic program of ontogenesis through establishing and maintaining differential gene expression. Thus mapping of various epigenetic mod...

    Authors: Tatiana Kulikova, Anna Surkova, Anna Zlotina and Alla Krasikova

    Citation: Molecular Cytogenetics 2020 13:32

    Content type: Research

    Published on:

  42. Retinoblastoma is a malignancy of the eye in children characterized by biallelic inactivation of the retinoblastoma 1 gene (RB1), located at chromosome 13q14.2. Children with interstitial chromosome 13q deletions...

    Authors: Sabine Dittner-Moormann, Madlen Reschke, Eva Biewald, Alma Kuechler, Barbara Klein, Beate Timmermann, Dietmar Lohmann, Petra Ketteler and Deniz Kanber

    Citation: Molecular Cytogenetics 2020 13:31

    Content type: Case Report

    Published on:

  43. Small supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in children or fetuses with hypoevolutism and infertile adults. sSMCs are ...

    Authors: Tingting Li, Haiquan Sang, Guoming Chu, Yuanyuan Zhang, Manlong Qi, Xiaoliang Liu, Wanting Cui and Yanyan Zhao

    Citation: Molecular Cytogenetics 2020 13:30

    Content type: Research

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  44. About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 20...

    Authors: Abdulsamad Wafa, Rami A. Jarjour, Abdulmunim Aljapawe, Suher ALmedania, Thomas Liehr, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar

    Citation: Molecular Cytogenetics 2020 13:29

    Content type: Case Report

    Published on:

  45. 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there...

    Authors: Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen and Huaxiang Shen

    Citation: Molecular Cytogenetics 2020 13:28

    Content type: Research

    Published on:

  46. High proportion of human embryos produced by in vitro fertilization (IVF) is aneuploidy. Many factors are related to the prevalence of embryonic aneuploidies, such as maternal age, sperm quality, and in vitro ...

    Authors: Xiangli Niu, Jiamin Long, Fangqiang Gong and Weihua Wang

    Citation: Molecular Cytogenetics 2020 13:27

    Content type: Case Report

    Published on:

  47. Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced transloca...

    Authors: Jingbo Zhang, Bei Zhang, Tong Liu, Huihui Xie and Jingfang Zhai

    Citation: Molecular Cytogenetics 2020 13:26

    Content type: Case Report

    Published on:

  48. Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL b...

    Authors: Jéssica Almeida Batista-Gomes, Fernando Augusto Rodrigues Mello Jr, Edivaldo Herculano Corrêa de Oliveira, Michel Platini Caldas de Souza, Alayde Vieira Wanderley, Laudreisa da Costa Pantoja, Ney Pereira Carneiro dos Santos, Bruna Cláudia Meireles Khayat and André Salim Khayat

    Citation: Molecular Cytogenetics 2020 13:25

    Content type: Short report

    Published on:

  49. Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease. Globozoospermia (MIM102530) (also known as round-headed sperm) is a ...

    Authors: You-zhu Li, Rong-feng Wu, Xing-shen Zhu, Wen-sheng Liu, Yuan-yuan Ye, Zhong-xian Lu and Na Li

    Citation: Molecular Cytogenetics 2020 13:24

    Content type: Case Report

    Published on:

  50. Tourette syndrome (TS) is a complex neurodevelopmental disorder (NDD) characterized by multiple chronic involuntary motor and vocal tics with onset during childhood or adolescence. Most TS patients present wit...

    Authors: Stefania Maccarini, Annamaria Cipani, Valeria Bertini, Jelena Skripac, Alessandro Salvi, Giuseppe Borsani and Eleonora Marchina

    Citation: Molecular Cytogenetics 2020 13:23

    Content type: Case Report

    Published on:

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