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  1. Research

    Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures

    Spontaneous abortion (SA) is the most common complication of pregnancy, and chromosome aberrations are the principal cause of the first trimester abortuses in natural conception (NC) The increasing use of assi...

    Tonghua Wu, Biao Yin, Yuanchang Zhu, Guangui Li, Lijun Ye, Chunmei Chen, Yong Zeng and Desheng Liang

    Molecular Cytogenetics 2016 9:79

    Published on: 12 October 2016

  2. Case Report

    Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

    Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype.

    Elisa Tassano, Mariasavina Severino, Silvia Rosina, Riccardo Papa, Domenico Tortora, Giorgio Gimelli, Cristina Cuoco and Paolo Picco

    Molecular Cytogenetics 2016 9:78

    Published on: 10 October 2016

  3. Case Report

    Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities

    Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysm...

    Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Vassilis Paspaliaris, Christina Zerva, Panagiotis Chatzis, Loretta Thomaidis, Emmanouil Manolakos and Ioannis Papoulidis

    Molecular Cytogenetics 2016 9:77

    Published on: 6 October 2016

  4. Case Report

    12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments

    Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also...

    Marcio Leyser, Bruno Leonardo Dias, Ana Luiza Coelho, Marcio Vasconcelos and Osvaldo J. M. Nascimento

    Molecular Cytogenetics 2016 9:75

    Published on: 4 October 2016

  5. Case Report

    The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

    1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysm...

    Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim and Hyung-Goo Kim

    Molecular Cytogenetics 2016 9:74

    Published on: 29 September 2016

  6. Hypothesis

    New insights of karyoevolution in the Amazonian turtles Podocnemis expansa and Podocnemis unifilis (Testudines, Podocnemidae)

    Cytogenetic studies were conducted in the Brazilian Amazon turtles, Podocnemis expansa Schweigger, 1912 (PEX) and Podocnemis unifilis Troschel, 1848 (PUN) to understand their karyoevolution. Their chromosomal com...

    R. C. R. Noronha, L. M. R. Barros, R. E. F. Araújo, D. F. Marques, C. Y. Nagamachi, C. Martins and J. C. Pieczarka

    Molecular Cytogenetics 2016 9:73

    Published on: 27 September 2016

  7. Research

    19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

    Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly.

    Hai-Yun Dong, Hui Zeng, Yi-Qiao Hu, Li Xie, Jian Wang, Xiu-Ying Wang, Yi-Feng Yang and Zhi-Ping Tan

    Molecular Cytogenetics 2016 9:71

    Published on: 22 September 2016

  8. Research

    First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease

    Fanconi anemia (FA) is a chromosomal instability syndrome characterized by increased frequency of chromosomal breakages, chromosomal radial figures and accelerated telomere shortening. In this work we performe...

    Jelena Filipović, Gordana Joksić, Dragana Vujić, Ivana Joksić, Kristin Mrasek, Anja Weise and Thomas Liehr

    Molecular Cytogenetics 2016 9:70

    Published on: 13 September 2016

  9. Research

    Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

    Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (...

    Malgorzata I. Srebniak, Merel C. de Wit, Karin E. M. Diderich, Lutgarde C. P. Govaerts, Marieke Joosten, Maarten F. C. M. Knapen, Marnix J. Bos, Gerda A. G. Looye-Bruinsma, Mieke Koningen, Attie T. J. I. Go, Robert Jan H. Galjaard and Diane Van Opstal

    Molecular Cytogenetics 2016 9:69

    Published on: 7 September 2016

  10. Case Report

    MYB deregulation from a EWSR1-MYB fusion at leukemic evolution of a JAK2 V617F positive primary myelofibrosis

    Although Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are usually not aggressive, the type and the number of molecular lesions impact greatly on leukemic transformation. Indeed, the molecular ba...

    Tiziana Pierini, Danika Di Giacomo, Valentina Pierini, Paolo Gorello, Gianluca Barba, Anair Graciela Lema Fernandez, Fabrizia Pellanera, Tamara Iannotti, Franca Falzetti, Roberta La Starza and Cristina Mecucci

    Molecular Cytogenetics 2016 9:68

    Published on: 1 September 2016

  11. Case Report

    Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis

    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...

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

    Molecular Cytogenetics 2016 9:67

    Published on: 31 August 2016

  12. Case Report

    Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

    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...

    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

    Molecular Cytogenetics 2016 9:66

    Published on: 24 August 2016

  13. Research

    Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams’ syndrome patients in Saudi Arabia

    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...

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

    Molecular Cytogenetics 2016 9:65

    Published on: 12 August 2016

  14. Letter to Editor

    Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge

    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...

    Jia-Chi Wang and Fatih Z. Boyar

    Molecular Cytogenetics 2016 9:64

    Published on: 10 August 2016

  15. Research

    Sex chromosome loss after allogeneic hematopoietic stem cell transplant in patients with hematologic neoplasms: a diagnostic dilemma for clinical cytogeneticists

    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...

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

    Molecular Cytogenetics 2016 9:62

    Published on: 8 August 2016

  16. Research

    Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

    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...

    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

    Molecular Cytogenetics 2016 9:61

    Published on: 8 August 2016

  17. Case Report

    14q32.3-qter trisomic segment: a case report and literature review

    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...

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

    Molecular Cytogenetics 2016 9:60

    Published on: 5 August 2016

  18. Short report

    The ancestral chromosomes of Dromiciops gliroides (Microbiotheridae), and its bearings on the karyotypic evolution of American marsupials

    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...

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

    Molecular Cytogenetics 2016 9:59

    Published on: 3 August 2016

  19. Case Report

    A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies

    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, ...

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

    Molecular Cytogenetics 2016 9:58

    Published on: 2 August 2016

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