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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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

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

  22. 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

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  23. 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

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  24. 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

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  25. 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

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  26. Chronic lymphocytic leukemia (CLL) is a highly variable disease with life expectancies ranging from months to decades. Cytogenetic findings play an integral role in defining the prognostic significance and tre...

    Authors: Roger A Schultz, Maria Delioukina, Karl Gaal, Victoria Bedell, David D Smith, Stephen J Forman, Lisa D McDaniel, Blake C Ballif, Lisa G Shaffer and Marilyn L Slovak

    Citation: Molecular Cytogenetics 2011 4:4

    Content type: Research

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  27. To evaluate the clinical validity of genome-wide oligonucleotide array comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have applied this genomic analysis to 30 cases (13 MDS an...

    Authors: Renu Bajaj, Fang Xu, Bixia Xiang, Katherine Wilcox, Autumn J DiAdamo, Rachana Kumar, Alexandra Pietraszkiewicz, Stephanie Halene and Peining Li

    Citation: Molecular Cytogenetics 2011 4:3

    Content type: Research

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  28. Small supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques. These marker chromosomes may c...

    Authors: Diane Van Opstal, Marjan Boter, Petra Noomen, Malgorzata Srebniak, Guus Hamers and Robert-Jan H Galjaard

    Citation: Molecular Cytogenetics 2011 4:2

    Content type: Research

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  29. Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases ...

    Authors: Marina Manvelyan, Friedrich W Cremer, Jeannette Lancé, Rüdiger Kläs, Christina Kelbova, Christian Ramel, Herbert Reichenbach, Catharina Schmidt, Elisabeth Ewers, Katharina Kreskowski, Monika Ziegler, Nadezda Kosyakova and Thomas Liehr

    Citation: Molecular Cytogenetics 2011 4:1

    Content type: Research

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  30. The purpose of the study was the application and evaluation of array Comparative Genomic Hybridization (array CGH) in selected cases during prenatal diagnosis. Array CGH was applied in 25 fetal samples out of ...

    Authors: Paola Evangelidou, Carolina Sismani, Marios Ioannides, Christodoulos Christodoulou, George Koumbaris, Ioannis Kallikas, Ioannis Georgiou, Voula Velissariou and Philippos C Patsalis

    Citation: Molecular Cytogenetics 2010 3:24

    Content type: Research

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  31. Recent genome-wide microarray-based research investigations have revealed a high frequency of submicroscopic copy number alterations (CNAs) in the myelodysplastic syndromes (MDS), suggesting microarray-based c...

    Authors: Marilyn L Slovak, David D Smith, Victoria Bedell, Ya-Hsuan Hsu, Margaret O'Donnell, Stephen J Forman, Karl Gaal, Lisa McDaniel, Roger Schultz, Blake C Ballif and Lisa G Shaffer

    Citation: Molecular Cytogenetics 2010 3:23

    Content type: Research

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  32. The genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyotyping has been used as one of the routine techniques for ...

    Authors: Emmanouil Manolakos, Annalisa Vetro, Konstantinos Kefalas, Stamatia-Maria Rapti, Eirini Louizou, Antonios Garas, George Kitsos, Lefteris Vasileiadis, Panagiota Tsoplou, Makarios Eleftheriades, Panagiotis Peitsidis, Sandro Orru, Thomas Liehr, Michael B Petersen and Loretta Thomaidis

    Citation: Molecular Cytogenetics 2010 3:22

    Content type: Research

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  33. Typical Williams-Beuren syndrome (WBS) is commonly caused by a ~1.5 Mb - ~1.8 Mb heterozygous deletion of contiguous genes at chromosome region 7q11.23. The majority of WBS cases occurs sporadically but few fa...

    Authors: Judith Frohnauer, Almuth Caliebe, Stefan Gesk, Carl-Joachim Partsch, Reiner Siebert, Rainer Pankau and Jutta Jenderny

    Citation: Molecular Cytogenetics 2010 3:21

    Content type: Research

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  34. Mitotic cell death is an important form of cell death, particularly in cancer. Chromosome fragmentation is a major form of mitotic cell death which is identifiable during common cytogenetic analysis by its uni...

    Authors: Joshua B Stevens, Batoul Y Abdallah, Sarah M Regan, Guo Liu, Steven W Bremer, Christine J Ye and Henry H Heng

    Citation: Molecular Cytogenetics 2010 3:20

    Content type: Review

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  35. Array CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of p...

    Authors: Alison Hills, Joo Wook Ahn, Celia Donaghue, Helen Thomas, Kathy Mann and Caroline Mackie Ogilvie

    Citation: Molecular Cytogenetics 2010 3:19

    Content type: Research

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  36. Partial trisomy of the short arm of chromosome 9 is among the most common autosomal structural chromosomal anomalies leading to chromosomal imbalance in human. Clinical characteristics are craniofacial dysmorp...

    Authors: Walid Al Achkar, Abdulsamad Wafa, Faten Moassass and Thomas Liehr

    Citation: Molecular Cytogenetics 2010 3:18

    Content type: Case report

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  37. For the rapid detection of common aneuploidies either PCR or Fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells are widely used. There are different commercial suppliers providing FIS...

    Authors: Christel Eckmann-Scholz, Stefan Gesk, Inga Nagel, Andrea Haake, Susanne Bens, Simone Heidemann, Monika Kautza, Christian Timke, Reiner Siebert and Almuth Caliebe

    Citation: Molecular Cytogenetics 2010 3:16

    Content type: Case report

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  38. Chronic myeloid leukaemia (CML) is characterized by the expression of the BCR/ABL1 fusion gene, a constitutively activated tyrosine kinase that commonly results from the formation of the Philadelphia (Ph) chromos...

    Authors: Anna Virgili and Elisabeth P Nacheva

    Citation: Molecular Cytogenetics 2010 3:15

    Content type: Research

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  39. Premature ovarian failure (POF) has repeatedly been associated to X-chromosome deletions. FMR1 gene premutation allele's carrier women have an increased risk for POF. We intent to determine the cause of POF in a ...

    Authors: Susana I Ferreira, Eunice Matoso, Marta Pinto, Joana Almeida, Thomas Liehr, Joana B Melo and Isabel M Carreira

    Citation: Molecular Cytogenetics 2010 3:14

    Content type: Research

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  40. Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genom...

    Authors: Lars T van der Veken, Marianne MJ Dieleman, Hannie Douben, Judith C van de Brug, Raoul van de Graaf, A Jeannette M Hoogeboom, Pino J Poddighe and Annelies de Klein

    Citation: Molecular Cytogenetics 2010 3:13

    Content type: Case report

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  41. The group of small blue round cell tumors encompasses a heterogeneous group of neoplasms characterized by primitive appearing round cells with few distinguishing histologic features.

    Authors: Marina Pacheco, Douglas E Horsman, Malcolm M Hayes, Paul W Clarkson, Hassan Huwait and Torsten O Nielsen

    Citation: Molecular Cytogenetics 2010 3:12

    Content type: Case report

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  42. Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below t...

    Authors: Nicholas J Neill, Beth S Torchia, Bassem A Bejjani, Lisa G Shaffer and Blake C Ballif

    Citation: Molecular Cytogenetics 2010 3:11

    Content type: Research

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  43. Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (...

    Authors: Dilek Aktas, Eda G Utine, Kristin Mrasek, Anja Weise, Ferdinand von Eggeling, Kalbiye Yalaz, Nicole Posorski, Nurten Akarsu, Mehmet Alikasifoglu, Thomas Liehr and Ergul Tuncbilek

    Citation: Molecular Cytogenetics 2010 3:10

    Content type: Research

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  44. Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyot...

    Authors: Joo Wook Ahn, Kathy Mann, Sally Walsh, Marwa Shehab, Sarah Hoang, Zoe Docherty, Shehla Mohammed and Caroline Mackie Ogilvie

    Citation: Molecular Cytogenetics 2010 3:9

    Content type: Research

    Published on:

  45. Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connecti...

    Authors: Thomas Liehr

    Citation: Molecular Cytogenetics 2010 3:8

    Content type: Review

    Published on:

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