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  1. Content type: Case Report

    About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. R...

    Authors: Ana Carolina S. Fonseca, Adriano Bonaldi, Simone A. S. Fonseca, Paulo A. Otto, Fernando Kok, Mads Bak, Niels Tommerup and Angela M. Vianna-Morgante

    Citation: Molecular Cytogenetics 2015 8:106

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  2. Content type: Research

    Studies of model organisms have demonstrated that DNA cytosine methylation and histone modifications are key regulators of gene expression in biological processes. Comparatively little is known about the prese...

    Authors: Renae Domaschenz, Alexandra M. Livernois, Sudha Rao, Tariq Ezaz and Janine E. Deakin

    Citation: Molecular Cytogenetics 2015 8:104

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  3. Content type: Case Report

    To develop a novel preimplantation genetic screening (PGS) test using next generation sequencing(NGS) as a alternative to current array comparative genomic hybridization (array CGH) method for detection of sma...

    Authors: Jian Ou, Wei Wang, Tao Feng, Lianming Liao, Qingxia Meng, Qinyan Zou, Jie Ding, Aiyan Zheng, Chengying Duan, Peipei Li, Qiang Liu, Chunhua Lin and Hong Li

    Citation: Molecular Cytogenetics 2015 8:105

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  4. Content type: Research

    Congenital heart defects (CHD) represent one of the most common birth defects. This study aimed to evaluate the value of multiplex ligation-dependent probe amplification (MLPA) as a tool to detect the copy num...

    Authors: Jingjing Zhang, Dingyuan Ma, Yan Wang, Li Cao, Yun Wu, Fengchang Qiao, An Liu, Li Li, Ying Lin, Gang Liu, Cuiyun Liu, Ping Hu and Zhengfeng Xu

    Citation: Molecular Cytogenetics 2015 8:100

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  5. Content type: Case Report

    The Philadelphia (Ph) chromosome, or derivative chromosome 22 [der(22)], is a product of the reciprocal translocation t(9;22). It is the hallmark of chronic myelogenous leukemia (CML). It results in juxtaposit...

    Authors: Abdulsamad Wafa, Suher Almedani, Thomas Liehr and Walid Al-Achkar

    Citation: Molecular Cytogenetics 2015 8:98

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  6. Content type: Case Report

    Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused...

    Authors: Haiming Yuan, Lina Zhang, Mengfan Chen, Junping Zhu, Zhe Meng and Liyang Liang

    Citation: Molecular Cytogenetics 2015 8:99

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  7. Content type: Research

    The low copy repeats (LCRs) in chromosome 15q11-q13 have been recognized as breakpoints (BP) for not only intrachromosomal deletions and duplications but also small supernumerary marker chromosomes 15, sSMC(15...

    Authors: Qin Wang, Weiqing Wu, Zhiyong Xu, Fuwei Luo, Qinghua Zhou, Peining Li and Jiansheng Xie

    Citation: Molecular Cytogenetics 2015 8:97

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  8. Content type: Case Report

    The chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering t...

    Authors: Rita Genesio, Paolo Fontana, Angela Mormile, Alberto Casertano, Mariateresa Falco, Anna Conti, Adriana Franzese, Enza Mozzillo, Lucio Nitsch and Daniela Melis

    Citation: Molecular Cytogenetics 2015 8:96

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  9. Content type: Case Report

    Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene ...

    Authors: Qi Li, Zhen Zhang, Yuchun Yan, Ping Xiao, Zhijie Gao, Wei Cheng, Lin Su, Kaihui Yu, Hua Xie, Xiaoli Chen, Qian Jiang and Long Li

    Citation: Molecular Cytogenetics 2015 8:95

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  10. Content type: Case Report

    Use of human mesenchymal stromal cells (MSCs) is a promising strategy for cell therapy in injured tissues recovery. However, MSCs acquire genetic changes when cultivated in vitro that make them more susceptible t...

    Authors: Tamara Borgonovo, Maria Marlene Solarewicz, Isadora May Vaz, Debora Daga, Carmen Lúcia Kuniyoshi Rebelatto, Alexandra Cristina Senegaglia, Enilze Ribeiro, Iglenir João Cavalli and Paulo Slud Brofman

    Citation: Molecular Cytogenetics 2015 8:94

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  11. Content type: Case Report

    Interstitial deletions of the long arm of chromosome 14 involving the 14q24-q32 region have been reported in less than 20 patients. Previous studies mainly attempted to delineate recognizable facial dysmorphis...

    Authors: Francesco Nicita, Marilena Di Giacomo, Orazio Palumbo, Emanuela Ferri, Daniela Maiorani, Federico Vigevano, Massimo Carella and Alessandro Capuano

    Citation: Molecular Cytogenetics 2015 8:93

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  12. Content type: Case Report

    14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet.

    Authors: Hande Küçük Kurtulgan, Leyla Özer, Malik Ejder Yıldırım, Evrim Ünsal, Süleyman Aktuna, Volkan Baltacı, Nejmiye Akkuş and İlhan Sezgin

    Citation: Molecular Cytogenetics 2015 8:92

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  13. Content type: Research

    Acipenseriformes take a basal position among Actinopteri and demonstrate a striking ploidy variation among species. The sterlet (Acipenser ruthenus, Linnaeus, 1758; ARUT) is a diploid 120-chromosomal sturgeon dis...

    Authors: Svetlana A. Romanenko, Larisa S. Biltueva, Natalya A. Serdyukova, Anastasia I. Kulemzina, Violetta R. Beklemisheva, Olga L. Gladkikh, Natalia A. Lemskaya, Elena A. Interesova, Marina A. Korentovich, Nadezhda V. Vorobieva, Alexander S. Graphodatsky and Vladimir A. Trifonov

    Citation: Molecular Cytogenetics 2015 8:90

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  14. Content type: Research

    Double minute chromosomes (DMs) are the cytogenetic hallmark of extra-chromosomal genomic amplification. They can well represent the advanced stage of malignancy. However, the mechanisms of DM generation are s...

    Authors: Jie Xu, Peng Liu, Xiangning Meng, Jing Bai, Songbin Fu, Rongwei Guan and Wenjing Sun

    Citation: Molecular Cytogenetics 2015 8:91

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  15. Content type: Case Report

    Purine-rich element binding protein A (PURA, MIM 600473), is considered the crucial phenocritical gene for an emerging 5q31.3 microdeletion syndrome. To date, at least seven affected individuals with overlapping ...

    Authors: Maria Clara Bonaglia, Nicoletta Zanotta, Roberto Giorda, Grazia D’Angelo and Claudio Zucca

    Citation: Molecular Cytogenetics 2015 8:89

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  16. Content type: Case Report

    Ring chromosome 11[r (11)] is a rare chromosomal abnormality that forms when both arms of chromosome 11 break, and then reunite with each other. Once a ring chromosome forms, the distal ends of both arms of th...

    Authors: Ying Peng, Ruiyu Ma, Yingjie Zhou, Yan Xia, Juan Wen, Yanghui Zhang, Ruolan Guo, Haoxian Li, Qian Pan, Rui Zhang, Chengyuan Tang, Desheng Liang and Lingqian Wu

    Citation: Molecular Cytogenetics 2015 8:88

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  17. Content type: Research

    Thrombocytopenia-absent radius syndrome (TAR; MIM 274000) is a rare autosomal recessive disorder combining specific skeletal abnormalities with a reduced platelet count. TAR syndrome has been associated with t...

    Authors: Elisa Tassano, Stefania Gimelli, Maria Teresa Divizia, Margherita Lerone, Carlotta Vaccari, Aldamaria Puliti and Giorgio Gimelli

    Citation: Molecular Cytogenetics 2015 8:87

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  18. Content type: Research

    While some transposable elements (TEs) have been found in the sequenced genomes of frog species, detailed studies of these elements have been lacking. In this work, we investigated the occurrence of the Rex1 elem...

    Authors: Juliana Nascimento, Diego Baldo and Luciana Bolsoni Lourenço

    Citation: Molecular Cytogenetics 2015 8:86

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  19. Content type: Research

    The prenatal diagnosis of subjects with complete uniparental isodisomy of chromosome 4 (iUPD4) has rarely been reported and poses a great challenge for genetic counseling. In this study, a prenatal case with a...

    Authors: WeiQiang Liu, HuiMin Zhang, Jian Wang, GuoJiu Yu, WenJun Qiu, ZhiHua Li, Min Chen, Kwong Wai Choy and XiaoFang Sun

    Citation: Molecular Cytogenetics 2015 8:85

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  20. Content type: Research

    In contrast to other autism spectrum disorders, chromosome abnormalities are rare in Asperger syndrome (AS) or high-functioning autism. Consequently, AS was occasionally subjected to classical positional cloni...

    Authors: Ivan Y. Iourov, Svetlana G. Vorsanova, Victoria Y. Voinova and Yuri B. Yurov

    Citation: Molecular Cytogenetics 2015 8:82

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  21. Content type: Case Report

    X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical findings of stippled epyphises, nasomaxillary hypoplasia and short distal phala...

    Authors: Irena Vrečar, Gorazd Rudolf, Borut Peterlin and Luca Lovrecic

    Citation: Molecular Cytogenetics 2015 8:83

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  22. Content type: Case Report

    Genetic aberrations in PAFAH1B1 result in isolated lissencephaly sequence (ILS), a neuronal migration disorder associated with severe mental retardation and intractable epilepsy. Approximately 60 % of patients wi...

    Authors: Satoru Takahashi, Ryosuke Tanaka, Satomi Okano, Akie Okayama, Nao Suzuki and Hiroshi Azuma

    Citation: Molecular Cytogenetics 2015 8:84

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  23. Content type: Research

    Iberian Leuciscinae are greatly diverse comprising taxa of hybrid origin. With highly conservative karyotypes, Iberian Chondrostoma s.l. have recently demonstrated sub-chromosomal differentiation and rapid genome...

    Authors: Carla Sofia A. Pereira, Marlon F. Pazian, Petr Ráb and Maria João Collares-Pereira

    Citation: Molecular Cytogenetics 2015 8:81

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  24. Content type: Methodology

    Meiotic chromosome preparation is a key step in plant meiotic research. Pollen mother cell (PMC) wall elimination is beneficial to cytogenetic experimental procedures. Without wall interference, these procedur...

    Authors: Jiangbo Dang, Qian Zhao, Xing Yang, Zhi Chen, Suqiong Xiang and Guolu Liang

    Citation: Molecular Cytogenetics 2015 8:80

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  25. Content type: Methodology

    Clinical trials of agents targeting epidermal growth factor receptor (EGFR) in esophageal carcinoma (EC) have indicated a minority subgroup responsive to anti-EGFR therapies. Other investigations suggest incre...

    Authors: Åsa Dahle-Smith, David Stevenson, Doreen Massie, Graeme I. Murray, Susan J. Dutton, Corran Roberts, David Ferry, Aileen Osborne, Caroline Clark, Russell D. Petty and Zosia Miedzybrodzka

    Citation: Molecular Cytogenetics 2015 8:78

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  26. Content type: Research

    Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding pare...

    Authors: Ivan Y. Iourov, Svetlana G. Vorsanova, Sergei A. Korostelev, Maria A. Zelenova and Yuri B. Yurov

    Citation: Molecular Cytogenetics 2015 8:77

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  27. Content type: Case Report

    Mutations of mediator subcomplex 12 (MED12) and of high mobility group protein AT-hook 2 (HMGA2) are driver mutations in uterine leiomyomas (UL) that have not been observed to coexist in one tumor and even rarely...

    Authors: Carsten Holzmann, Dominique Nadine Markowski, Sabine Bartnitzke, Dirk Koczan, Burkhard Maria Helmke and Jörn Bullerdiek

    Citation: Molecular Cytogenetics 2015 8:76

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  28. Content type: Case Report

    The identification of structural variants of uncertain clinical significance is increasing; however, studies delineating the functional consequence of these variants in the pathogenicity of phenotypic features...

    Authors: Joseph T. Alaimo, Sureni V. Mullegama, Mary Ann Thomas and Sarah H. Elsea

    Citation: Molecular Cytogenetics 2015 8:75

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  29. Content type: Research

    Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other seizure...

    Authors: Julia K. Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P. Zimmermann, Eva Wohlleber, Ute Grasshoff, Eva Rossier, Michael Bonin, Elisabeth Mangold, Andrea Bevot, Stefanie Schön, Stefanie Heilmann-Heimbach, Nicola Dennert, Michèle Mathieu-Dramard, Elodie Lacaze…

    Citation: Molecular Cytogenetics 2015 8:72

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  30. Content type: Case Report

    Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted re...

    Authors: Ioannis Papoulidis, Vassilis Paspaliaris, Elisavet Siomou, Sandro Orru, Roberta Murru, Stavros Sifakis, Petros Nikolaidis, Antonios Garas, Sotirios Sotiriou, Loretta Thomaidis and Emmanouil Manolakos

    Citation: Molecular Cytogenetics 2015 8:71

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  31. Content type: Case report

    We report a case of a woman with a cryptic balanced translocation between chromosomes 5 and 17, suspected during genetic counseling.

    Authors: A. Primerano, E. Colao, C. Villella, M. D. Nocera, A. Ciambrone, E. Luciano, L. D’Antona, M. F. M. Vismara, S. Loddo, A. Novelli, N. Perrotti and Paola Malatesta

    Citation: Molecular Cytogenetics 2015 8:70

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  32. Content type: Letter to the Editor

    Mutations of FOXP2 in 7q31 cause a rare disorder involving speech apraxia, accompanied by expressive and receptive language impairments. A recent report described a child with speech and language deficits, and a ...

    Authors: Martin Becker, Paolo Devanna, Simon E. Fisher and Sonja C. Vernes

    Citation: Molecular Cytogenetics 2015 8:69

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  33. Content type: Research

    Acute myeloid leukemia (AML) with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) is a distinct clinicopathologic entity with a poor prognosis. However, double inv(3)(q21q26.2) is extremely rare in AML. We report here 3 ca...

    Authors: Jun Gu, Keyur P. Patel, Bing Bai, Ching-Hua Liu, Guilin Tang, Hagop M. Kantarjian, Zhenya Tang, Ronald Abraham, Rajyalakshmi Luthra, L. Jeffrey Medeiros, Pei Lin and Xinyan Lu

    Citation: Molecular Cytogenetics 2015 8:68

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  34. Content type: Case report

    The CHL1 gene codes for a member of the L1 family of neural cell adhesion molecules. It is highly expressed in the central and peripheral nervous system playing an important role in the building and functioning o...

    Authors: Orazio Palumbo, Rita Fischetto, Pietro Palumbo, Francesco Nicastro, Francesco Papadia, Leopoldo Zelante and Massimo Carella

    Citation: Molecular Cytogenetics 2015 8:66

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  35. Content type: Methodology

    Approximately 10–15 % of all clinically recognized pregnancies end in miscarriage, the majority of them occur during the first trimester, underlying the cause of the loss. Genetic analysis of fetal tissues has...

    Authors: Javier Pérez-Durán, Zenyese Nájera, Yanelly Trujillo-Cabrera, Mónica Martín-Saro, Ethel García-Latorre, Jaime Escarcega-Preciado, Nayelli Nájera, Teresa Martínez-Galaviz and Gloria Queipo

    Citation: Molecular Cytogenetics 2015 8:63

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  36. Content type: Case report

    There are three distinct subtypes of Trichorhinophalangeal syndrome (TRPS); TRPS type I, TRPS type II and TRPS type III. Features common to all three subtypes include sparse, slowly growing scalp hair, lateral...

    Authors: Nikoletta Selenti, Maria Tzetis, Maria Braoudaki, Krinio Giannikou, Sofia Kitsiou-Tzeli and Helen Fryssira

    Citation: Molecular Cytogenetics 2015 8:64

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    The Erratum to this article has been published in Molecular Cytogenetics 2015 8:73

  37. Content type: case report

    Deletions in the long arm of chromosome 5 or loss of the whole chromosome are rare in childhood Acute Myeloid Leukemia (AML) patients. It is also unknown if the wide variety of breakpoints have diverging impli...

    Authors: Amanda Faria de Figueiredo, Roberto Rodrigues Capela de Matos, Moneeb A. K. Othman, Thomas Liehr, Elaine Sobral da Costa, Marcelo Geradin Poirot Land, Raul C. Ribeiro, Eliana Abdelhay and Maria Luiza Macedo Silva

    Citation: Molecular Cytogenetics 2015 8:62

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  38. Content type: Research

    Lemon balm (Melissa officinalis L.) is of increasing importance resulting in rising growth area. Improved knowledge on the genome structure, number of chromosomes in connection with the taxonomical structure of b...

    Authors: J. Kittler, O. Schrader, U. Kästner and F. Marthe

    Citation: Molecular Cytogenetics 2015 8:61

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  39. Content type: Case report

    Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence of a derivative chromosome 22 [der(22)] commonly called Philadelphia chromosome (Ph). The Ph chromosome is a produc...

    Authors: Abdulsamad Wafa, Manar Asa’ad, Adnan Ikhtiar, Thomas Liehr and Walid Al-Achkar

    Citation: Molecular Cytogenetics 2015 8:59

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  40. Content type: Case report

    Duplications of MECP2 gene in males cause a syndrome characterized by distinctive clinical features, including severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech dev...

    Authors: Pamela Magini, Monica Poscente, Simona Ferrari, Manuela Vargiolu, Elena Bacchelli, Claudio Graziano, Anita Wischmeijer, Daniela Turchetti, Elisabetta Malaspina, Valentina Marchiani, Duccio Maria Cordelli, Emilio Franzoni, Giovanni Romeo and Marco Seri

    Citation: Molecular Cytogenetics 2015 8:58

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  41. Content type: Case report

    We report two unrelated patients with overlapping chromosome 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental...

    Authors: Eva Hladilkova, Tuva Barøy, Madeleine Fannemel, Vladimira Vallova, Doriana Misceo, Vesna Bryn, Iva Slamova, Sarka Prasilova, Petr Kuglik and Eirik Frengen

    Citation: Molecular Cytogenetics 2015 8:57

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  42. Content type: Research

    The Erythrinidae fish family contains three genera, Hoplias, Erythrinus and Hoplerythrinus widely distributed in Neotropical region. Remarkably, species from this family are characterized by an extensive karyotyp...

    Authors: Ezequiel Aguiar de Oliveira, Luiz Antônio Carlos Bertollo, Cassia Fernanda Yano, Thomas Liehr and Marcelo de Bello Cioffi

    Citation: Molecular Cytogenetics 2015 8:56

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  43. Content type: Research

    The Gossypium hirsutum homoeologous chromosome 12 encodes important genes that contribute to fiber fuzz, lethality, gland development and male sterility. In this study a physical map of the cotton TM-1 chromosome...

    Authors: Yanhui Lv, Dan Ma, Wenhua Liang, Yuanda Lv, Wangzhen Guo, Yan Hu and Tianzhen Zhang

    Citation: Molecular Cytogenetics 2015 8:55

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  44. Content type: Case report

    Ring chromosome 6 is a rare chromosome abnormality that arises typically de novo. The phenotypes can be highly variable, ranging from almost normal to severe malformations and neurological defects. We report a ca...

    Authors: Satsuki Nishigaki, Takashi Hamazaki, Mika Saito, Toshiyuki Yamamoto, Toshiyuki Seto and Haruo Shintaku

    Citation: Molecular Cytogenetics 2015 8:54

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