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  1. Undifferentiated embryonal sarcoma of the liver (UESL) represents a heterogeneous group of tumors derived from mesenchymal tissues. Earlier cytogenetic studies in limited cases demonstrated that UESL is associ...

    Authors: Xiaoxia Hu, Haiying Chen, Meishan Jin, Xianfu Wang, Jiyun Lee, Weihong Xu, Rui Zhang, Shibo Li and Junqi Niu

    Citation: Molecular Cytogenetics 2012 5:26

    Content type: Case report

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  2. Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q...

    Authors: Susana Isabel Ferreira, Eunice Matoso, Margarida Venâncio, Jorge Saraiva, Joana B Melo and Isabel Marques Carreira

    Citation: Molecular Cytogenetics 2012 5:25

    Content type: Case report

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  3. Single embryo transfer (SET) remains underutilized as a strategy to reduce multiple gestation risk in IVF, and its overall lower pregnancy rate underscores the need for improved techniques to select one embryo...

    Authors: Zhihong Yang, Jiaen Liu, Gary S Collins, Shala A Salem, Xiaohong Liu, Sarah S Lyle, Alison C Peck, E Scott Sills and Rifaat D Salem

    Citation: Molecular Cytogenetics 2012 5:24

    Content type: Methodology

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  4. Translocation (9;22)(q34;q11.2) resulting in BCR/ABL1 fusion at the molecular level is the hallmark of chronic myelogenous leukemia (CML). Variants of the Philadelphia translocation and complex translocations ...

    Authors: Mohamed M Elnaggar, Sally Agersborg, Trilochan Sahoo, Ati Girgin, Wanlong Ma, Ronjay Rakkhit, Isabel Zorrilla and Alexis Leal

    Citation: Molecular Cytogenetics 2012 5:23

    Content type: Case report

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  5. ZAP70 gene expression is associated with poor prognosis in B-cell lymphoproliferative disorders especially chronic lymphocytic leukaemia (CLL) but its role in adult B-ALL has not been established. On diagnostic s...

    Authors: Geothy Chakupurakal, Andrew Bell, Mike Griffiths, Farooq Wandroo and Paul Moss

    Citation: Molecular Cytogenetics 2012 5:22

    Content type: Short report

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  6. About 5-10 % of chronic myelogenous leukemia (CML) patients show variant Philadelphia (Ph) translocations. The formation mechanisms and clinical significance of variant Ph translocations remain unclear. We rep...

    Authors: Sho Yokota, Yuichi Nakamura and Masami Bessho

    Citation: Molecular Cytogenetics 2012 5:20

    Content type: Case report

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  7. Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found ...

    Authors: Caroline Robberecht, Thierry Voet, Gülen E Utine, Albert Schinzel, Nicole de Leeuw, Jean-Pierre Fryns and Joris Vermeesch

    Citation: Molecular Cytogenetics 2012 5:19

    Content type: Research

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  8. Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic h...

    Authors: Patrícia BS Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Malgorzata MJ Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle S Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A Rosenfeld, Roger E Stevenson, Sung-Hae L Kang…

    Citation: Molecular Cytogenetics 2012 5:17

    Content type: Research

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  9. The term "position effect" is used when the expression of a gene is deleteriously affected by an alteration in its chromosomal environment even though the integrity of the protein coding sequences is maintaine...

    Authors: Palma Finelli, Silvia Maria Sirchia, Maura Masciadri, Milena Crippa, Maria Paola Recalcati, Daniela Rusconi, Daniela Giardino, Laura Monti, Francesca Cogliati, Francesca Faravelli, Federica Natacci, Leonardo Zoccante, Bernardo Dalla Bernardina, Silvia Russo and Lidia Larizza

    Citation: Molecular Cytogenetics 2012 5:16

    Content type: Research

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  10. Small supernumerary marker chromosomes (sSMC) are detected in 0.043% of general population and can be characterized for their chromosomal origin, genetic content and shape by molecular cytogenetic approaches. ...

    Authors: Elisabeth Klein, Marina Manvelyan, Isabella Simonyan, Ahmed B Hamid, Roberta Santos Guilherme, Thomas Liehr and Tatyana Karamysheva

    Citation: Molecular Cytogenetics 2012 5:15

    Content type: Research

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  11. We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical...

    Authors: Malgorzata I Srebniak, Marjan Boter, Gretel O Oudesluijs, Titia Cohen-Overbeek, Lutgarde CP Govaerts, Karin EM Diderich, Renske Oegema, Maarten FCM Knapen, Ingrid MBH van de Laar, Marieke Joosten, Diane Van Opstal and Robert-Jan H Galjaard

    Citation: Molecular Cytogenetics 2012 5:14

    Content type: Short report

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  12. We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin h...

    Authors: Ashutosh Halder, Manish Jain, Isha Chaudhary and Binuja Varma

    Citation: Molecular Cytogenetics 2012 5:13

    Content type: Case report

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  13. Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribut...

    Authors: Stavros Sifakis, Emmanouil Manolakos, Annalisa Vetro, Dimitra Kappou, Panagiotis Peitsidis, Maria Kontodiou, Antonios Garas, Nikolaos Vrachnis, Anastasia Konstandinidou, Orsetta Zuffardi, Sandro Orru and Ioannis Papoulidis

    Citation: Molecular Cytogenetics 2012 5:12

    Content type: Case report

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  14. Low-Copy Repeats predispose the 15q11-q13 region to non-allelic homologous recombination. We have already demonstrated that a significant percentage of Prader-Willi syndrome (PWS) fathers have an increased sus...

    Authors: Òscar Molina, Ester Anton, Francesca Vidal and Joan Blanco

    Citation: Molecular Cytogenetics 2012 5:11

    Content type: Research

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  15. The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and ar...

    Authors: Ruth N MacKinnon, Carly Selan, Adrian Zordan, Meaghan Wall, Harshal Nandurkar and Lynda J Campbell

    Citation: Molecular Cytogenetics 2012 5:10

    Content type: Methodology

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  16. Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been inv...

    Authors: Maryam Rafati, Elaheh Seyyedaboutorabi, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihanidoust, Mohammad R Eshraghian, Gholam Reza Javadi, Jila Dastan, Alireza Mosavi-Jarrahi, Azadeh Hoseini, Marzieh Purhoseini and Saeed R Ghaffari

    Citation: Molecular Cytogenetics 2012 5:9

    Content type: Research

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  17. Double aneuploidy mosaicism of two different aneuploidy cell lines is rare. We describe for the first time a double trisomy mosaicism, involving chromosomes 7 and 13 in a fetus presenting with multiple congeni...

    Authors: Karin Huijsdens-van Amsterdam, Daniela QCM Barge-Schaapveld, Inge B Mathijssen, Mariëlle Alders, Eva Pajkrt and Alida C Knegt

    Citation: Molecular Cytogenetics 2012 5:8

    Content type: Case report

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  18. As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the ...

    Authors: Angelique JA Kooper, Jacqueline JPM Pieters, Brigitte HW Faas, Lies H Hoefsloot, Ineke van der Burgt, Hans A Zondervan and Arie PT Smits

    Citation: Molecular Cytogenetics 2012 5:7

    Content type: Research

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  19. The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular ...

    Authors: Mileny ES Colovati, Luciana RJ da Silva, Sylvia S Takeno, Tatiane I Mancini, Ana R N Dutra, Roberta S Guilherme, Cláudia B de Mello, Maria I Melaragno and Ana B A Perez

    Citation: Molecular Cytogenetics 2012 5:5

    Content type: Case report

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  20. Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive fami...

    Authors: Maryam Rafati, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihanidoust, Mohammad R Eshraghian, Jila Dastan, Azadeh Hoseini, Marzieh Purhoseini and Saeed R Ghaffari

    Citation: Molecular Cytogenetics 2012 5:4

    Content type: Research

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  21. Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analy...

    Authors: Arturo Anguiano, Boris T Wang, Shirong R Wang, Fatih Z Boyar, Loretta W Mahon, Mohamed M El Naggar, Peter H Kohn, Mary H Haddadin, Vladimira Sulcova, Adam H Sbeiti, Mervat S Ayad, Beverly J White and Charles M Strom

    Citation: Molecular Cytogenetics 2012 5:3

    Content type: Research

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  22. A small percentage of all cases of schizophrenia have a childhood onset. The impact on the individual and family can be devastating. We report the results of genetic analyses from a patient with onset of visua...

    Authors: Sharon L Graw, Karen Swisshelm, Kirsten Floyd, Billie J Carstens, Marianne Z Wamboldt, Randall G Ross and Sherry Leonard

    Citation: Molecular Cytogenetics 2012 5:2

    Content type: Case report

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  23. Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. To date, interstitial d...

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

    Citation: Molecular Cytogenetics 2012 5:1

    Content type: Case report

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  24. Genotype-phenotype correlations for chromosomal imbalances are often limited by overlapping effects of partial trisomy and monosomy resulting from unbalanced translocations and by poor resolution of banding an...

    Authors: Jörg Weimer, Simone Heidemann, Constantin S von Kaisenberg, Werner Grote, Norbert Arnold, Susanne Bens and Almuth Caliebe

    Citation: Molecular Cytogenetics 2011 4:28

    Content type: Case report

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  25. Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases a...

    Authors: Malgorzata I Srebniak, Marjan Boter, Carla MA Verboven-Peerden, Gerda AG Looye-Bruinsma, Gretel Oudesluijs, Robert-Jan H Galjaard and Diane Van Opstal

    Citation: Molecular Cytogenetics 2011 4:27

    Content type: Short report

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  26. Differentiated thyroid carcinoma offers a good model to investigate the possible correlation between specific gene mutations and chromosome instability. Papillary thyroid neoplasms are characterized by differe...

    Authors: Irena Maric, Silvia Viaggi, Paola Caria, Daniela V Frau, Paolo Degan and Roberta Vanni

    Citation: Molecular Cytogenetics 2011 4:26

    Content type: Research

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  27. Cytogenetic evaluation is a key component of the diagnosis and prognosis of chronic lymphocytic leukemia (CLL). We performed oligonucleotide-based comparative genomic hybridization microarray analysis on 34 sa...

    Authors: Kathryn A Kolquist, Roger A Schultz, Marilyn L Slovak, Lisa D McDaniel, Theresa C Brown, Raymond R Tubbs, James R Cook, Karl S Theil, Victoria Cawich, Caitlin Valentin, Sara Minier, Nicholas J Neill, Steve Byerly, S Annie Morton, Trilochan Sahoo, Blake C Ballif…

    Citation: Molecular Cytogenetics 2011 4:25

    Content type: Research

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  28. Supernumerary B chromosomes occur in addition to standard karyotype and have been described in about 15% of eukaryotes, being the repetitive DNAs the major component of these chromosomes, including in some cas...

    Authors: Nathalia L Oliveira, Diogo C Cabral-de-Mello, Marília F Rocha, Vilma Loreto, Cesar Martins and Rita C Moura

    Citation: Molecular Cytogenetics 2011 4:24

    Content type: Research

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  29. Monosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to ...

    Authors: Nanis S Marzuki, Helena W Anggaratri, Lita P Suciati, Debby D Ambarwati, Chrysantine Paramayuda, Hannie Kartapradja, Aman B Pulungan and Alida Harahap

    Citation: Molecular Cytogenetics 2011 4:23

    Content type: Research

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  30. The past decade has witnessed an explosion of genome sequencing and mapping in evolutionary diverse species. While full genome sequencing of mammals is rapidly progressing, the ability to assemble and align or...

    Authors: Alexander S Graphodatsky, Vladimir A Trifonov and Roscoe Stanyon

    Citation: Molecular Cytogenetics 2011 4:22

    Content type: Review

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  31. Chromosome rearrangements involving telomeres have been established as one of the major causes of idiopathic mental retardation/developmental delay. This case of 7p partial trisomy syndrome in a 3-year-old fem...

    Authors: Aswini S, Venkata O Padmalatha, Saranya G, Durgadatta T, Raseswari T, Kanakavalli M Kulashekaran, Meena J, Chandra N, Lalji S and Lakshmi R Kandukuri

    Citation: Molecular Cytogenetics 2011 4:21

    Content type: Research

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  32. Near-tetraploid (model #81-103) and near-triploid (model #67-81) karyotypes are found in around 1% of childhood acute lymphoblastic leukemia. Due to its rarity, these two cytogenetic subgroups are generally in...

    Authors: Daniela RN Garcia, Samarth Bhatt, Marina Manvelyan, Mariana T de Souza, Renata Binato, Thais F Aguiar, Eliana Abdelhay and Maria Luiza M Silva

    Citation: Molecular Cytogenetics 2011 4:20

    Content type: Case report

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  33. Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD). Deletion 1q44 (or Monosomy 1q44) is a wel...

    Authors: Meena Lall, Seema Thakur, Ratna Puri, Ishwar Verma, Mithali Mukerji and Pankaj Jha

    Citation: Molecular Cytogenetics 2011 4:19

    Content type: Case report

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  34. Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans ...

    Authors: Takema Kato, Hidehito Inagaki, Maoqing Tong, Hiroshi Kogo, Tamae Ohye, Kouji Yamada, Makiko Tsutsumi, Beverly S Emanuel and Hiroki Kurahashi

    Citation: Molecular Cytogenetics 2011 4:18

    Content type: Research

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  35. Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in ...

    Authors: Danijela Krgovic, Natasa Marcun Varda, Andreja Zagorac and Nadja Kokalj-Vokac

    Citation: Molecular Cytogenetics 2011 4:17

    Content type: Case report

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  36. Myelodysplastic syndrome (MDS) represents a group of clonal hematological disorders characterized by progressive cytopenia, and reflects to defects in erythroid, myeloid and megakaryocytic maturation. MDS is m...

    Authors: Walid Al-Achkar, Abdulsamad Wafa, Elisabeth Klein and Abdulmunim Aljapawe

    Citation: Molecular Cytogenetics 2011 4:16

    Content type: Case report

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  37. The goal of this study was to investigate ERBB2(HER2) and EGFR gene amplification and protein expression in gastric cancer. Fluorescence in situ hybridization (FISH) and immunohistochemistry were used to analyze

    Authors: Wang YK, Gao CF, Yun T, Chen Z, Zhang XW, Lv XX, Meng NL and Zhao WZ

    Citation: Molecular Cytogenetics 2011 4:14

    Content type: Research

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  38. The results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by comparative genomic hybridization on microarray (a-CGH), but in mosaicis...

    Authors: Roberto Valli, Cristina Marletta, Barbara Pressato, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali and Emanuela Maserati

    Citation: Molecular Cytogenetics 2011 4:13

    Content type: Research

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  39. Array comparative genomic hybridization (CGH) is currently the most powerful method for detecting chromosomal alterations in pre and postnatal clinical cases. In this study, we developed a BAC based array CGH ...

    Authors: Sang-Jin Park, Eun Hye Jung, Ran-Suk Ryu, Hyun Woong Kang, Jung-Min Ko, Hyon J Kim, Chong Kun Cheon, Sang-Hyun Hwang and Ho-Young Kang

    Citation: Molecular Cytogenetics 2011 4:12

    Content type: Research

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  40. Authors: Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen and Sofia Kitsiou-Tzeli

    Citation: Molecular Cytogenetics 2011 4:11

    Content type: Erratum

    Published on:

    The original article was published in Molecular Cytogenetics 2011 4:6

  41. Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish ...

    Authors: Jawaher Al-Zahrani, Naji Al-Dosari, Nada AbuDheim, Tarfa A Alshidi, Dilek Colak, Ola Al-Habit, Ali Al-Odaib, Nadia Sakati, Brian Meyer, Pinar T Ozand and Namik Kaya

    Citation: Molecular Cytogenetics 2011 4:9

    Content type: Case report

    Published on:

  42. The chromosomal translocation (11;14)(q13;q32) rearranging the locus for cyclin D1 (CCND1) to that of the immunoglobulin heavy chain (IGH) can be found in virtually all cases of mantle cell lymphoma (MCL), while ...

    Authors: Cristiano Krings Rocha, Inka Praulich, Iris Gehrke, Michael Hallek and Karl-Anton Kreuzer

    Citation: Molecular Cytogenetics 2011 4:8

    Content type: Case report

    Published on:

  43. Inversion of the Williams syndrome (WS) region on chromosome 7q11.23 has previously been shown to occur at a higher frequency in the transmitting parents of children with WS than in the general population, sug...

    Authors: Colleen A Morris, Carolyn B Mervis and Lucy R Osborne

    Citation: Molecular Cytogenetics 2011 4:7

    Content type: Letter to Editor

    Published on:

  44. Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes...

    Authors: Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen and Sofia Kitsiou-Tzeli

    Citation: Molecular Cytogenetics 2011 4:6

    Content type: Case report

    Published on:

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