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Molecular Cytogenetics

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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. Content type: Case Report

    Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated with variable defects: microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly of hands and feet, micrognathia/ret...

    Authors: Pavlina Capkova, Alena Santava, Ivana Markova, Andrea Stefekova, Josef Srovnal, Katerina Staffova and Veronika Durdová

    Citation: Molecular Cytogenetics 2017 10:47

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  7. Content type: Case Report

    The molecular etiology of Beckwith-Wiedemann syndrome (BWS) is complex and heterogeneous. Several subtypes of epigenetic-genetic alterations including aberrant methylation patterns, segmental uniparental disom...

    Authors: Qin Wang, Qian Geng, Qinghua Zhou, Fuwei Luo, Peining Li and Jiansheng Xie

    Citation: Molecular Cytogenetics 2017 10:46

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  8. Content type: Review

    Mosaicism for chromosome rearrangements is common in preimplantation diagnoses, yet is rare in prenatal diagnoses as well as in other groups of patients referred to cytogenetic testing. Consequently, there is ...

    Authors: Natalia V. Kovaleva and Philip D. Cotter

    Citation: Molecular Cytogenetics 2017 10:45

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  9. Content type: Methodology

    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

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  10. Content type: Case Report

    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

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  11. Content type: Case Report

    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

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  12. Content type: Research

    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

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  13. Content type: Case Report

    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

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  14. Content type: Case Report

    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

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  15. Content type: Case Report

    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

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  16. Content type: Research

    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

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  17. Content type: Case Report

    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

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  18. Content type: Case Report

    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

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  19. Content type: Case Report

    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

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  20. Content type: Case Report

    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

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  21. Content type: Research

    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

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