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  1. Content type: Research

    Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false po...

    Authors: Hongge Li, Yu Lei, Hui Zhu, Yuqin Luo, Yeqing Qian, Min Chen, Yixi Sun, Kai Yan, Yanmei Yang, Bei Liu, Liya Wang, Yingzhi Huang, Junjie Hu, Jianyun Xu and Minyue Dong

    Citation: Molecular Cytogenetics 2018 11:59

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  2. Content type: Research

    This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior pre...

    Authors: Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu and Hua Cao

    Citation: Molecular Cytogenetics 2018 11:58

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  3. Content type: Case Report

    Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Dup...

    Authors: A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid and M. S. Zaki

    Citation: Molecular Cytogenetics 2018 11:57

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  4. Content type: Letter to Editor

    The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations ass...

    Authors: Vanessa Fiorini Furtado, Neeraj Y. Saini, William Walsh, Venu Bathini and Patricia M. Miron

    Citation: Molecular Cytogenetics 2018 11:56

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  5. Content type: Case Report

    Deletions involving the long arm of chromosome 18 have been associated with a highly variable phenotypic spectrum that is related to the extent of the deleted region. Duplications in chromosomal region 4p16.3 ...

    Authors: Chunjing Wang, Huanhuan Ren, Huaifu Dong, Meng Liang, Qi Wu and Yaping Liao

    Citation: Molecular Cytogenetics 2018 11:55

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  6. Content type: Research

    Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeleti...

    Authors: Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan and Murat Erdogan

    Citation: Molecular Cytogenetics 2018 11:54

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  7. Content type: Case Report

    The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retard...

    Authors: Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo and Palma Finelli

    Citation: Molecular Cytogenetics 2018 11:53

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  8. Content type: Case Report

    Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis.

    Authors: Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalprà, Marialuisa Lavitrano and Gaia Roversi

    Citation: Molecular Cytogenetics 2018 11:52

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  9. Content type: Research

    Polyploidy, although still poorly explored, represents an important evolutionary event in several cyprinid clades. Herein, Catlocarpio siamensis and Probarbus jullieni - representatives of the paleotetraploid tri...

    Authors: Pasakorn Saenjundaeng, Marcelo de Bello Cioffi, Ezequiel Aguiar de Oliveira, Alongklod Tanomtong, Weerayuth Supiwong, Sumalee Phimphan, Maria João Collares-Pereira, Alexandr Sember, Luiz Antonio Carlos Bertollo, Thomas Liehr, Cassia Fernanda Yano, Terumi Hatanaka and Petr Ráb

    Citation: Molecular Cytogenetics 2018 11:51

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  10. Content type: Case Report

    Complex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural al...

    Authors: Peter J. B. Sabatini, Resham Ejaz, Dimitri J. Stavropoulos, Roberto Mendoza-Londono and Ann M. Joseph-George

    Citation: Molecular Cytogenetics 2018 11:50

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  11. Content type: Research

    Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not...

    Authors: Yuan Tian, Linlin Zhang, Weifang Tian, Jinshuang Gao, Liting Jia and Shihong Cui

    Citation: Molecular Cytogenetics 2018 11:49

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  12. Content type: Review

    Recombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a total of 18 cases of rec (4) syndrome we...

    Authors: Yi Wu, Yanlin Wang, Shi Wu Wen, Xinrong Zhao, Wenjing Hu, Chunmin Liu, Li Gao, Yan Zhang, Shan Wang, Xingyu Yang, Biwei He and Weiwei Cheng

    Citation: Molecular Cytogenetics 2018 11:48

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  13. Content type: Research

    Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but the...

    Authors: Jiexia Yang, Yiming Qi, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, O. Y. Haoxin, Yixia Wang, Huajie Huang and Aihua Yin

    Citation: Molecular Cytogenetics 2018 11:47

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  14. Content type: Research

    Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically...

    Authors: Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu and Seher Basaran

    Citation: Molecular Cytogenetics 2018 11:45

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  15. Content type: Research

    Chromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and som...

    Authors: Xiangyu Zhu, Jie Li, Yujie Zhu, Wanjun Wang, Xing Wu, Ying Yang, Leilei Gu, Yuanyuan Gu and Yali Hu

    Citation: Molecular Cytogenetics 2018 11:44

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  16. Content type: Research

    The clinical features of Down syndrome vary among individuals, with those most common being congenital heart disease, intellectual disability, developmental abnormity and dysmorphic features. Complex combinati...

    Authors: Wenfu Li, Xianfu Wang and Shibo Li

    Citation: Molecular Cytogenetics 2018 11:42

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  17. Content type: Case Report

    Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes.

    Authors: Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin and Yao-Shan Fan

    Citation: Molecular Cytogenetics 2018 11:43

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  18. Content type: Research

    Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear. This study aims to find ou...

    Authors: Haibo Li, Minjuan Liu, Min Xie, Qin Zhang, Jingjing Xiang, Chengying Duan, Yang Ding, Yinghua Liu, Jun Mao, Ting Wang and Hong Li

    Citation: Molecular Cytogenetics 2018 11:41

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  19. Content type: Case Report

    Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, ch...

    Authors: Viviane Lamim Lovatel, Daiane Corrêa de Souza, Tatiana Fonseca Alvarenga, Roberto R. Capela de Matos, Claudia Diniz, Marcia Trindade Schramm, Juan Clinton Llerena Júnior, Maria Luiza Macedo Silva, Eliana Abdelhay and Teresa de Souza Fernandez

    Citation: Molecular Cytogenetics 2018 11:40

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  20. Content type: Case Report

    Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features wer...

    Authors: Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor and Borut Peterlin

    Citation: Molecular Cytogenetics 2018 11:39

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  21. Content type: Case Report

    Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing att...

    Authors: Jun-Kun Chen, Ping Liu, Li-Qin Hu, Qing Xie, Quan-Fei Huang and Hai-Liang Liu

    Citation: Molecular Cytogenetics 2018 11:37

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  22. Content type: Publisher Correction

    In the original publication of this article [1] the figures and the captions of 3 figures do not match correctly due to a typographical error. In this correction article the corrected figures and captions for ...

    Authors: Robert M. Hoffman

    Citation: Molecular Cytogenetics 2018 11:38

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    The original article was published in Molecular Cytogenetics 2017 10:11

  23. Content type: Research

    Interspecific hybridization is an effective strategy for germplasm innovation in sugarcane. Nobilization refers to the breeding theory of development and utilization of wild germplasm. Saccharum spontaneum is the...

    Authors: Fan Yu, Ping Wang, Xueting Li, Yongji Huang, Qinnan Wang, Ling Luo, Yanfen Jing, Xinlong Liu, Zuhu Deng, Jiayun Wu, Yongqing Yang, Rukai Chen, Muqing Zhang and Liangnian Xu

    Citation: Molecular Cytogenetics 2018 11:35

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  24. Content type: Case Report

    Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.

    Authors: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup and Carolina Sismani

    Citation: Molecular Cytogenetics 2018 11:34

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  25. Content type: Research

    Application of chromosomal microarray analysis (CMA) to investigate the genetic characteristics of fetal growth restriction (FGR) without ultrasonic structural anomalies at 18–32 weeks.

    Authors: Gang An, Yuan Lin, Liang Pu Xu, Hai Long Huang, Si Ping Liu, Yan Hong Yu and Fang Yang

    Citation: Molecular Cytogenetics 2018 11:33

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  26. Content type: Review

    In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g. yeast ...

    Authors: Christine J. Ye, Sarah Regan, Guo Liu, Sarah Alemara and Henry H. Heng

    Citation: Molecular Cytogenetics 2018 11:31

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  27. Content type: Research

    Detailed karyotyping using metaphase chromosomes in melon (Cucumis melo L.) remains a challenge because of their small chromosome sizes and poor stainability. Prometaphase chromosomes, which are two times longer ...

    Authors: Agus Budi Setiawan, Chee How Teo, Shinji Kikuchi, Hidenori Sassa and Takato Koba

    Citation: Molecular Cytogenetics 2018 11:32

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  28. Content type: Case Report

    With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific...

    Authors: Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek and Marketa Vlckova

    Citation: Molecular Cytogenetics 2018 11:29

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  29. Content type: Case Report

    In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400–500-band karyotyping i...

    Authors: Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch and Sara Frías

    Citation: Molecular Cytogenetics 2018 11:30

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  30. Content type: Case Report

    A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,...

    Authors: Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap and Nanis S. Marzuki

    Citation: Molecular Cytogenetics 2018 11:28

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  31. Content type: Research

    Thinopyrum ponticum (2n = 10× = 70, JSJSJSJSJJJJJJ) is an important wild perennial Triticeae species that has a unique gene pool with many desirable traits for common wheat. The partial amphiploids derived from w...

    Authors: Yanru Pei, Yu Cui, Yanping Zhang, Honggang Wang, Yinguang Bao and Xingfeng Li

    Citation: Molecular Cytogenetics 2018 11:27

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  32. Content type: Research

    Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation.

    Authors: Anna A. Kashevarova, Elena O. Belyaeva, Aleksandr M. Nikonov, Olga V. Plotnikova, Nikolay A. Skryabin, Tatyana V. Nikitina, Stanislav A. Vasilyev, Yulia S. Yakovleva, Nadezda P. Babushkina, Ekaterina N. Tolmacheva, Mariya E. Lopatkina, Renata R. Savchenko, Lyudmila P. Nazarenko and Igor N. Lebedev

    Citation: Molecular Cytogenetics 2018 11:26

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  33. Content type: Correction

    In the original publication [1] the author names were in the wrong order. The correct version can be found in this Erratum. The original article has been updated to rectify this error.

    Authors: Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai and Yi Liu

    Citation: Molecular Cytogenetics 2018 11:25

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    The original article was published in Molecular Cytogenetics 2018 11:18

  34. Content type: Case Report

    1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the ...

    Authors: Aixiang Luo, Dehua Cheng, Shimin Yuan, Haiyu Li, Juan Du, Yang Zhang, Chuanchun Yang, Ge Lin, Wenyong Zhang and Yue-Qiu Tan

    Citation: Molecular Cytogenetics 2018 11:24

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  35. Content type: Case Report

    Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype cor...

    Authors: Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware and Benjamin M. Helm

    Citation: Molecular Cytogenetics 2018 11:23

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  36. Content type: Case Report

    Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute mye...

    Authors: Faten Moassass, Abdulsamad Wafa, Thomas Liehr, Ayman Al-Ablog and Walid AL Achkar

    Citation: Molecular Cytogenetics 2018 11:22

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  37. Content type: Research

    Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential p...

    Authors: Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski and Anja Weise

    Citation: Molecular Cytogenetics 2018 11:20

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  38. Content type: Review

    Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic beh...

    Authors: Qiping Hu, Hongyan Chai, Wei Shu and Peining Li

    Citation: Molecular Cytogenetics 2018 11:19

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  39. Content type: Research

    Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced ga...

    Authors: Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai and Yi Liu

    Citation: Molecular Cytogenetics 2018 11:18

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    The Correction to this article has been published in Molecular Cytogenetics 2018 11:25

  40. Content type: Case Report

    Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NB...

    Authors: Raneem Habib, Heidemarie Neitzel, Aurelie Ernst, John K. L. Wong, Bozenna Goryluk-Kozakiewicz, Antje Gerlach, Ilja Demuth, Karl Sperling and Krystyna Chrzanowska

    Citation: Molecular Cytogenetics 2018 11:17

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  41. Content type: Research

    Amphidiploids generated by distant hybridization are commonly used as genetic bridge to transfer desirable genes from wild wheat species into cultivated wheat. This method is typically used to enhance the resi...

    Authors: Daiyan Li, Dan Long, Tinghui Li, Yanli Wu, Yi Wang, Jian Zeng, Lili Xu, Xing Fan, Lina Sha, Haiqin Zhang, Yonghong Zhou and Houyang Kang

    Citation: Molecular Cytogenetics 2018 11:16

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  42. Content type: Research

    Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical...

    Authors: Carla Sustek D’Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Perez, Charles Marques Lourenço, Chong Ae Kim, Debora Romeo Bertola, Fernando Kok, Luis Garcia-Alonso and Celia Priszkulnik Koiffmann

    Citation: Molecular Cytogenetics 2018 11:14

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  43. Content type: Case Report

    Small supernumerary marker chromosomes (sSMCs) are common structurally abnormal chromosomes that occur in 0.288% of cases of mental retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads ...

    Authors: Haiyu Li, Juan Du, Wen Li, Dehua Cheng, Wenbin He, Duo Yi, Bo Xiong, Shimin Yuan, Chaofeng Tu, Lanlan Meng, Aixiang Luo, Ge Lin, Guangxiu Lu and Yue-Qiu Tan

    Citation: Molecular Cytogenetics 2018 11:15

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  44. Content type: Research

    Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number ...

    Authors: Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P. Chorich, Megan E. Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M. Alper and Lawrence C. Layman

    Citation: Molecular Cytogenetics 2018 11:13

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  45. Content type: Research

    Chromosome translocations are rare but frequently associated with infertility. The objective of this study is to investigate the feasibility of using chromosomal microarray analysis (CMA) on products of concep...

    Authors: Ye-Qing Qian, Xiao-Ying Fu, Xiao-Qing Wang, Yu-Qin Luo, Min Chen, Kai Yan, Yan-Mei Yang, Bei Liu, Li-Ya Wang, Ying-Zhi Huang, Hong-Ge Li, Hang-Yi Pan, Fan Jin and Min-Yue Dong

    Citation: Molecular Cytogenetics 2018 11:12

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  46. Content type: Review

    Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive. Genetic cou...

    Authors: Hong-Guo Zhang, Rui-Xue Wang, Yuan Pan, Han Zhang, Lei-Lei Li, Hai-Bo Zhu and Rui-Zhi Liu

    Citation: Molecular Cytogenetics 2018 11:10

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