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  1. Content type: Case Report

    Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X...

    Authors: Lenka Pavlistova, Silvia Izakova, Zuzana Zemanova, Lucie Bartuskova, Martina Langova, Pavlina Malikova and Kyra Michalova

    Citation: Molecular Cytogenetics 2016 9:67

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  2. Content type: Case Report

    Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases hav...

    Authors: Shujie Zhang, Haisong Qin, Jin Wang, Luping OuYang, Shiyu Luo, Chunyun Fu, Xin Fan, Jiasun Su, Rongyu Chen, Bobo Xie, Xuyun Hu, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:66

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  3. Content type: Methodology

    Cytogenetic abnormalities are important prognostic markers in plasma cell myeloma (PCM) and detection is routinely performed by interphase fluorescence in-situ hybridization (FISH) with a panel of probes after...

    Authors: Edmond S. K. Ma, Candy L. N. Wang, Anthony T. C. Wong, Gigi Choy and Tsun Leung Chan

    Citation: Molecular Cytogenetics 2016 9:63

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  4. Content type: Research

    Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneup...

    Authors: I. R. Hussein, A. Magbooli, E. Huwait, A. Chaudhary, R. Bader, M. Gari, F. Ashgan, M. Alquaiti, A. Abuzenadah and M. AlQahtani

    Citation: Molecular Cytogenetics 2016 9:65

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  5. Content type: Letter to Editor

    Chromosomal microarray analysis (CMA) has been recommended and practiced routinely in the large reference laboratories of U.S.A. as the first-tier test for the postnatal evaluation of individuals with intellec...

    Authors: Jia-Chi Wang and Fatih Z. Boyar

    Citation: Molecular Cytogenetics 2016 9:64

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  6. Content type: Research

    Sex chromosome loss (SCL), including loss of an X chromosome (-X) in females and loss of the Y chromosome (-Y) in males, resulting in a karyotype of 45,X, rarely occurs in patients post an allogeneic hematopoi...

    Authors: Zhenya Tang, L. Jeffrey Medeiros, C. Cameron Yin, Wei Wang, Xinyan Lu, Ken H. Young, Joseph D. Khoury and Guilin Tang

    Citation: Molecular Cytogenetics 2016 9:62

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  7. Content type: Research

    Marker chromosomes are small supernumerary chromosomes that cannot be unambiguously identified by chromosome banding techniques alone. However, the precise characterization of marker chromosomes is important f...

    Authors: Woori Jang, Hyojin Chae, Jiyeon Kim, Jung-Ok Son, Seok Chan Kim, Bo Kyung Koo, Myungshin Kim, Yonggoo Kim, In Yang Park and In Kyung Sung

    Citation: Molecular Cytogenetics 2016 9:61

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  8. Content type: Hypothesis

    Chromosome counting is a process in which cells determine somehow their intrinsic chromosome number(s). The best-studied cellular mechanism that involves chromosome counting is ‘chromosome-kissing’ and X-chrom...

    Authors: Martina Rinčić, Ivan Y. Iourov and Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:56

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  9. Content type: Case Report

    Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental m...

    Authors: Nicoletta Villa, Agnese Scatigno, Serena Redaelli, Donatella Conconi, Paola Cianci, Clotilde Farina, Chiara Fossati, Leda Dalprà, Silvia Maitz and Angelo Selicorni

    Citation: Molecular Cytogenetics 2016 9:60

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  10. Content type: Short report

    The low-numbered 14-chromosome karyotype of marsupials has falsified the fusion hypothesis claiming ancestrality from a 22-chromosome karyotype. Since the 14-chromosome condition of the relict Dromiciops gliroide...

    Authors: Elkin Y. Suárez-Villota, Ronie E. Haro, Rodrigo A. Vargas and Milton H. Gallardo

    Citation: Molecular Cytogenetics 2016 9:59

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  11. Content type: Case Report

    Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, ...

    Authors: Haiming Yuan, Zhe Meng, Liping Liu, Xiaoyan Deng, Xizi Hu and Liyang Liang

    Citation: Molecular Cytogenetics 2016 9:58

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  12. Content type: Case Report

    FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinica...

    Authors: H. Fryssira, E. Tsoutsou, S. Psoni, S. Amenta, T. Liehr, E. Anastasakis, Ch Skentou, A. Ntouflia, I. Papoulidis, E. Manolakos and N. Chaliasos

    Citation: Molecular Cytogenetics 2016 9:55

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  13. Content type: Research

    Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, or the congenital absence of uterus and vagina, is the most severe anomaly of the female reproductive tract. It affects 1 in 5,000 females, and is the second mos...

    Authors: Lacey S. Williams, Hyung-Goo Kim, Vera M. Kalscheuer, J. Matthew Tuck, Lynn P. Chorich, Megan E. Sullivan, Allison Falkenstrom, Richard H. Reindollar and Lawrence C. Layman

    Citation: Molecular Cytogenetics 2016 9:57

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  14. Content type: Case Report

    Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur e...

    Authors: Jing Liu, Hao Hu, Na Ma, Zhengjun Jia, Yuchun Zhou, Jiancheng Hu and Hua Wang

    Citation: Molecular Cytogenetics 2016 9:54

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  15. Content type: Erratum

    Authors: Juliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Gaona Oliveira-Gennaro, Filipe Brum Machado, Enrique Medina-Acosta, Ester Silveira Ramos, Maisa Yoshimoto and Lucia Martelli

    Citation: Molecular Cytogenetics 2016 9:53

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    The original article was published in Molecular Cytogenetics 2016 9:45

  16. Content type: Short report

    Despite progression in treatment of gastric cancer, prognosis of patients remains poor, in part due to the low rate of diagnosis during its early stages. This paradigm implies the necessity to identify molecul...

    Authors: T. M. Araújo, A. D. Seabra, E. M. Lima, P. P. Assumpção, R. C. Montenegro, S. Demachki, R. M. Burbano and A. S. Khayat

    Citation: Molecular Cytogenetics 2016 9:52

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  17. Content type: Case Report

    The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of th...

    Authors: Chunyang Li, Chunxue Liu, Bingrui Zhou, Chunchun Hu and Xiu Xu

    Citation: Molecular Cytogenetics 2016 9:51

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  18. Content type: Case Report

    BCR-ABL1 fusion proteins contain constitutively active tyrosine kinases that are potential candidates for targeted therapy with tyrosine kinase inhibitors such as imatinib in chronic m...

    Authors: Xiaodong Lyu, Jingke Yang, Xianwei Wang, Jieying Hu, Bing Liu, Yu Zhao, Zhen Guo, Bingshan Liu, Ruihua Fan and Yongping Song

    Citation: Molecular Cytogenetics 2016 9:47

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  19. Content type: Research

    During the final stages of oocyte development, all chromosomes join in a limited nuclear volume for the final formation of a single complex chromatin structure – the karyosphere. In the majority of mammalian s...

    Authors: Galina N. Pochukalina, Nadya V. Ilicheva, Olga I. Podgornaya and Alexey P. Voronin

    Citation: Molecular Cytogenetics 2016 9:50

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  20. Content type: Research

    Micronucleus (MN) assay is a well standardized approach for evaluation of clastogenic/aneugenic effects of mutagens. Fluorescence in situ hybridization (FISH) is successfully used to characterize the chromosom...

    Authors: Galina Hovhannisyan, Rouben Aroutiounian, Nelly Babayan, Tigran Harutyunyan and Thomas Liehr

    Citation: Molecular Cytogenetics 2016 9:49

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  21. Content type: Research

    Painters are exposed to an extensive variety of harmful substances like aromatic hydrocarbons used as solvents and paint removers, some of which have shown clastogenic activity. These substances constitute a c...

    Authors: Mónica Villalba-Campos, Lilian Chuaire-Noack, Magda Carolina Sánchez-Corredor and Milena Rondón-Lagos

    Citation: Molecular Cytogenetics 2016 9:46

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  22. Content type: Case Report

    Robertsonian translocations occur in approximately one in every 1000 newborns. Although most Robertsonian translocation carriers are healthy and have a normal lifespan, they are at increased risk of spontaneou...

    Authors: Jieping Song, Xi li, Lei Sun, Shuqin Xu, Nian Liu, Yanyi Yao, Zhi Liu, Weipeng Wang, Han Rong and Bo Wang

    Citation: Molecular Cytogenetics 2016 9:48

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  23. Content type: Case Report

    Individuals with apparently balanced translocations, often, show no clinical findings. However, in meiosis, translocations tend to cause errors on chromosome disjunction and the ones involving sex chromosomes ...

    Authors: Juliana Dourado Grzesiuk, Ciro Silveira Pereira, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Flávia Gaona Oliveira-Gennaro, Filipe Brum Machado, Enrique Medina-Acosta, Ester Silveira Ramos, Maisa Yoshimoto and Lucia Martelli

    Citation: Molecular Cytogenetics 2016 9:45

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    The Erratum to this article has been published in Molecular Cytogenetics 2016 9:53

  24. Content type: Methodology

    Preparation of good chromosome spreads without cytoplasmic contamination is the crucial step in cytogenetic mapping. To date, cytogenetic research in the Orchidaceae family has been carried out solely on mitot...

    Authors: Yi-Tzu Kuo, Hui-Lan Hsu, Chih-Hsin Yeh and Song-Bin Chang

    Citation: Molecular Cytogenetics 2016 9:44

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  25. Content type: Case Report

    Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short stature, feeding difficulties, microcephaly, dysmor...

    Authors: Malgorzata I. Srebniak, Laura J. C. M. van Zutven, Florence Petit, Sonia Bouquillon, Ilse P. J. van Heel, Maarten F. C. M. Knapen, Jerome M. J. Cornette, Andreas Kremer, Diane Van Opstal and Karin E. M. Diderich

    Citation: Molecular Cytogenetics 2016 9:43

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  26. Content type: Letter to Editor

    Detection of small supernumerary marker chromosomes in karyotype analysis represents a diagnostic challenge. While such markers are usually detected during cytogenetic studies of constitutional chromosome abno...

    Authors: Laura Morsberger, Kerry Powell and Yi Ning

    Citation: Molecular Cytogenetics 2016 9:42

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  27. Content type: Case Report

    Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported.

    Authors: Bobo Xie, Xin Fan, Yaqin Lei, Rongyu Chen, Jin Wang, Chunyun Fu, Shang Yi, Jingsi Luo, Shujie Zhang, Qi Yang, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:41

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  28. Content type: Case Report

    Structural rearrangements of chromosome 19p13.3 are a rare condition, and their phenotypic consequences remain not well defined, because of the variability of clinical manifestations. Increasing knowledge of n...

    Authors: Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Raffaella Stallone, Teresa Palladino, Leopoldo Zelante and Massimo Carella

    Citation: Molecular Cytogenetics 2016 9:40

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  29. Content type: Case report

    Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown.

    Authors: Jiasun Su, Rongyu Chen, Jingsi Luo, Xin Fan, Chunyun Fu, Jin Wang, Sheng He, Xuyun Hu, ShuJie Zhang, Shang Yi, Shaoke Chen and Yiping Shen

    Citation: Molecular Cytogenetics 2016 9:39

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  30. Content type: Case report

    Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tis...

    Authors: Elena Sukarova-Angelovska, Mirjana Kocova, Gordana Ilieva, Natalija Angelkova and Elena Kochova

    Citation: Molecular Cytogenetics 2016 9:38

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  31. Content type: Case Report

    Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC...

    Authors: Yu-an Hu, Yingxia Cui, Xiaobo Fan, Qiuyue WU, Weiwei Li and Weiping Wang

    Citation: Molecular Cytogenetics 2016 9:37

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  32. Content type: Research

    Trematodes have a complex life cycle with animal host changes and alternation of parthenogenetic and hermaphrodite generations. The parthenogenetic generation of the worm (rediae) from the first intermediate h...

    Authors: Anna I. Solovyeva, Vera N. Stefanova, Olga I. Podgornaya and Serghei Iu. Demin

    Citation: Molecular Cytogenetics 2016 9:34

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  33. Content type: Research

    One fundamental finding of the last decade is that, besides the primary DNA sequence information there are several epigenetic “information-layers” like DNA-and histone modifications, chromatin packaging and, l...

    Authors: Anja Weise, Samarth Bhatt, Katja Piaszinski, Nadezda Kosyakova, Xiaobo Fan, Annelore Altendorf-Hofmann, Alongklod Tanomtong, Arunrat Chaveerach, Marcelo Bello de Cioffi, Edivaldo de Oliveira, Joachim-U. Walther, Thomas Liehr and Jyoti P. Chaudhuri

    Citation: Molecular Cytogenetics 2016 9:36

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  34. Content type: Research

    The centromere is the specialized locus required for correct chromosome segregation during cell division. The DNA of most eukaryotic centromeres is composed of extended arrays of tandem repeats (satellite DNA)...

    Authors: Federico Cerutti, Riccardo Gamba, Alice Mazzagatti, Francesca M. Piras, Eleonora Cappelletti, Elisa Belloni, Solomon G. Nergadze, Elena Raimondi and Elena Giulotto

    Citation: Molecular Cytogenetics 2016 9:35

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  35. Content type: Research

    Karyotyping is the gold standard cytogenetic method for detection of ring chromosomes. In this study we report the molecular characterization of a novel ring 6 (r6) chromosome in a six-year-old girl with sever...

    Authors: Rui Zhang, Xuan Chen, Peiling Li, Xiumin Lu, Yu Liu, Yan Li, Liang Zhang, Mengnan Xu and David S. Cram

    Citation: Molecular Cytogenetics 2016 9:33

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  36. Content type: Research

    Chromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we ...

    Authors: Hong Yan Liu, Jia Huang, Tao Li, Dong Wu, Hong Dan Wang, Yue Wang, Tao Wang, Liang Jie Guo, Qian Nan Guo, Fei Fei Huang, Rui Li Wang and Ying Tai Wang

    Citation: Molecular Cytogenetics 2016 9:31

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  37. Content type: Research

    GSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. Howe...

    Authors: Andrey V. Khrunin, Irina N. Filippova, Aydar M. Aliev, Tat’yana V. Tupitsina, Petr A. Slominsky and Svetlana A. Limborska

    Citation: Molecular Cytogenetics 2016 9:30

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  38. Content type: Research

    The use of Microarray (array CGH) analysis has become a widely accepted front-line test replacing G banded chromosome studies for patients with an unexplained phenotype. We detail our findings of over 5300 cases.

    Authors: Adrian Mc Cormack, Karen Claxton, Fern Ashton, Philip Asquith, Edward Atack, Roberto Mazzaschi, Paula Moverley, Rachel O’Connor, Methat Qorri, Karen Sheath, Donald R. Love and Alice M. George

    Citation: Molecular Cytogenetics 2016 9:29

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  39. Content type: Research

    Dissecting genome organization is indispensable for further functional and applied studies. As genome sequences data shown, cotton genomes contain more than 60 % repetitive sequences, so study on repetitive se...

    Authors: Yuling Liu, Renhai Peng, Fang Liu, Xingxing Wang, Xinglei Cui, Zhongli Zhou, Chunying Wang, Xiaoyan Cai, Yuhong Wang, Zhongxu Lin and Kunbo Wang

    Citation: Molecular Cytogenetics 2016 9:27

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  40. Content type: Research

    Loss of expression of imprinted genes in the 15q11.2-q13 region is known to cause either Prader-Willi syndrome (PWS) or Angelman syndrome (AS), depending on the parent of origin. In some patients (1 % in PWS a...

    Authors: Umut Aypar, Nicole L. Hoppman, Erik C. Thorland and D. Brian Dawson

    Citation: Molecular Cytogenetics 2016 9:26

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  41. Content type: Research

    Single embryo transfer (SET) has been utilized as a strategy to reduce the chance of multifetal gestations in in vitro fertilization (IVF) but lower pregnancy rate remains a concern. Recent studies showed that...

    Authors: Gwo-Chin Ma, Hsin-Fu Chen, Yu-Shih Yang, Wen-Hsiang Lin, Feng-Po Tsai, Chi-Fang Lin, Chi Chiu and Ming Chen

    Citation: Molecular Cytogenetics 2016 9:25

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  42. Content type: Research

    While chromosome 1 is the largest chromosome in the human genome, less than two dozen cases of interstitial microdeletions in the short arm have been documented. More than half of the 1p microdeletion cases we...

    Authors: Jonathan D. J. Labonne, Yiping Shen, Il-Keun Kong, Michael P. Diamond, Lawrence C. Layman and Hyung-Goo Kim

    Citation: Molecular Cytogenetics 2016 9:24

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  43. Content type: Case Report

    Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy. Based on literature reports of limited cases, over 50 % of BPDCN have chromosomal abnormalities, but no single chromosomal...

    Authors: Zhenya Tang, Guilin Tang, Sa A. Wang, Xinyan Lu, Ken H. Young, Carlos E. Bueso-Ramos, Yesid Alvarado, L. Jeffrey Medeiros and Joseph D. Khoury

    Citation: Molecular Cytogenetics 2016 9:23

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  44. Content type: Case Report

    Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features – brachy(micro)cephaly, unusual shaped eyeb...

    Authors: Kinga Hadzsiev, Katalin Komlosi, Marta Czako, Balazs Duga, Renata Szalai, Andras Szabo, Etelka Postyeni, Titanilla Szabo, Gyorgy Kosztolanyi and Bela Melegh

    Citation: Molecular Cytogenetics 2016 9:22

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  45. Content type: Research

    Partial deletion of chromosome 21q is a very rare chromosomal abnormality associated with highly variable phenotypes, such as facial dysmorphic features, heart defects, seizures, psychomotor delay, and severe ...

    Authors: Edoardo Errichiello, Francesca Novara, Anna Cremante, Annapia Verri, Jessica Galli, Elisa Fazzi, Daniela Bellotti, Laura Losa, Mariangela Cisternino and Orsetta Zuffardi

    Citation: Molecular Cytogenetics 2016 9:21

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  46. Content type: Research

    Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work was to investigate CNAs in o...

    Authors: A. C. V. Krepischi, M. Maschietto, E. N. Ferreira, A. G. Silva, S. S. Costa, I. W. da Cunha, B. D. F. Barros, P. E. Grundy, C. Rosenberg and D. M. Carraro

    Citation: Molecular Cytogenetics 2016 9:20

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  47. Content type: Case Report

    Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is char...

    Authors: Martina Rincic, Milan Rados, Zeljka Krsnik, Kristina Gotovac, Fran Borovecki, Thomas Liehr and Lukrecija Brecevic

    Citation: Molecular Cytogenetics 2016 9:19

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  48. Content type: Case Report

    Ring chromosome 18 [r(18)] syndrome represents a relatively rare condition with a complex clinical picture including multiple congenital dysmorphia and varying degrees of mental retardation. The condition is c...

    Authors: Anna Zlotina, Tatiana Nikulina, Natalia Yany, Olga Moiseeva, Tatiana Pervunina, Eugeny Grekhov and Anna Kostareva

    Citation: Molecular Cytogenetics 2016 9:18

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