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Molecular Cytogenetics

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  1. 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

    Published on:

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

  2. 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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  3. 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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  4. 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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  6. 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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  7. 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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  8. 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

  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. Content type: Research

    Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have b...

    Authors: Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik…

    Citation: Molecular Cytogenetics 2018 11:9

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  16. 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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  18. Content type: Case Report

    Chiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomening...

    Authors: Shuai Guo, Xue-Feng Fan, Jie-Yuan Jin, Liang-Liang Fan, Lei Zeng, Zheng-Bing Zhou, Rong Xiang and Ju-Yu Tang

    Citation: Molecular Cytogenetics 2018 11:8

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  20. Content type: Case Report

    Collision tumors are rare entities that consist of two histologically distinct tumor types arising in the same anatomic site. An association between chronic lymphocytic leukemia (CLL) and malignant melanoma (M...

    Authors: Roberta La Starza, Tiziana Pierini, Lorenza Pastorino, Elisa Albi, Caterina Matteucci, Barbara Crescenzi, Paolo Sportoletti, Piero Covarelli, Franca Falzetti, Giovanni Roti, Stefano Ascani and Cristina Mecucci

    Citation: Molecular Cytogenetics 2018 11:6

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  22. Content type: Research

    Copy number variations (CNSs) of large genomic regions are an important mechanism implicated in the development of head and neck cancer, however, for most changes their exact role is not well understood. The a...

    Authors: Boris Zagradišnik, Danijela Krgović, Špela Stangler Herodež, Andreja Zagorac, Bogdan Ćižmarević and Nadja Kokalj Vokač

    Citation: Molecular Cytogenetics 2018 11:5

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  23. Content type: Case Report

    Translocations of the IGH locus on 14q32.3 are present in about 8% of patients with chronic lymphocytic leukemia (CLL) and contribute to leukemogenesis by deregulating the expression of the IGH-partner genes. Ide...

    Authors: Theodora Malli, Melanie Rammer, Sabrina Haslinger, Jonathan Burghofer, Sonja Burgstaller, Hans-Christian Boesmueller, Renate Marschon, Wolfgang Kranewitter, Martin Erdel, Sabine Deutschbauer and Gerald Webersinke

    Citation: Molecular Cytogenetics 2018 11:3

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  24. Content type: Research

    The majority of the cases of bone marrow failure syndromes/aplastic anaemias (BMFS/AA) are non-hereditary and considered idiopathic (80–85%). The peripheral blood picture is variable, with anaemia, neutropenia...

    Authors: R. Valli, L. Vinti, A. Frattini, M. Fabbri, G. Montalbano, C. Olivieri, A. Minelli, F. Locatelli, F. Pasquali and E. Maserati

    Citation: Molecular Cytogenetics 2018 11:2

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  25. Content type: Research

    Inactivation of the PTEN tumor suppressor gene by deletion occurs in 20–30% of prostate cancer tumors and loss strongly correlates with a worse outcome. PTEN loss of function not only leads to activation of the P...

    Authors: Thiago Vidotto, Daniel Guimarães Tiezzi and Jeremy A. Squire

    Citation: Molecular Cytogenetics 2018 11:1

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Molecular Cytogenetics

ISSN: 1755-8166