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Page 7 of 18

  1. 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

    Content type: Case report

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  2. 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

    Content type: Letter to the Editor

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  3. 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

    Content type: Research

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  4. 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

    Content type: Case report

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  5. 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

    Content type: Case report

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

  6. 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

    Content type: Methodology

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  7. 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

    Content type: case report

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  8. 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

    Content type: Research

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  9. 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

    Content type: Case report

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  10. 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

    Content type: Case report

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  11. 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

    Content type: Case report

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  12. 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

    Content type: Research

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  13. 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

    Content type: Research

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  14. 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

    Content type: Case report

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  15. Cytogenetic analysis of chorionic villous sampling revealed a mosaic karyotype with gain of a rearranged X chromosome. Microarray and additional studies indicated that the rearranged X carried an inverted dupl...

    Authors: Maria Yiu, Zhongxia Qi, Anita Ki and Jingwei Yu

    Citation: Molecular Cytogenetics 2015 8:53

    Content type: Case report

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  16. Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome. Turner syndrome is usually associated with short stature, gonada...

    Authors: Irén Haltrich, Henriett Pikó, Horolma Pamjav, Anikó Somogyi, Antónia Völgyi, Dezső David, Artúr Beke, Zoltán Garamvölgyi, Eszter Kiss, Veronika Karcagi and György Fekete

    Citation: Molecular Cytogenetics 2015 8:51

    Content type: Case report

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  17. Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating...

    Authors: Rita Genesio, Angela Mormile, Maria Rosaria Licenziati, Daniele De Brasi, Graziella Leone, Sara Balzano, Antonella Izzo, Ferdinando Bonfiglio, Anna Conti, Gennaro Fioretti, Selvaggia Lenta, Maria Rita Poggiano, Paolo Siani and Lucio Nitsch

    Citation: Molecular Cytogenetics 2015 8:50

    Content type: Case report

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  18. Aneuploidy is an important etiology of implantation failure and quantitative real-time polymerase chain reaction (qPCR) seems a promising preimplantation genetic screening (PGS) technology to detect aneuploidi...

    Authors: Yu-Shih Yang, Shun-Ping Chang, Hsin-Fu Chen, Gwo-Chin Ma, Wen-Hsiang Lin, Chi-Fang Lin, Feng-Po Tsai, Cheng-Hsuan Wu, Horng-Der Tsai, Tsung-Hsien Lee and Ming Chen

    Citation: Molecular Cytogenetics 2015 8:49

    Content type: Research

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  19. In B-cell precursor acute lymphoblastic leukemia (BCP-ALL) PAX5, a transcription factor pivotal for B-cell commitment and maintenance, is frequently affected by genetic alterations. In 2-3 % of the cases PAX5 rea...

    Authors: Stefanie Anderl, Margit König, Andishe Attarbaschi and Sabine Strehl

    Citation: Molecular Cytogenetics 2015 8:48

    Content type: Case report

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  20. Genomes and by extension chromosome territories (CTs) in a variety of organisms exhibit nonrandom organization within interphase nuclei. CTs are susceptible to movement upon induction by a variety of stimuli, ...

    Authors: Dimitrios Ioannou, Lakshmi Kandukuri, Joe Leigh Simpson and Helen Ghislaine Tempest

    Citation: Molecular Cytogenetics 2015 8:47

    Content type: Research

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  21. Cytogenomic mutations and chromosomal abnormality are implicated in the neuropathology of several brain diseases. Cell heterogeneity of brain tissues makes their detection and validation difficult, however. I...

    Authors: Miwako Sakai, Yuichiro Watanabe, Toshiyuki Someya, Kazuaki Araki, Masako Shibuya, Kazuhiro Niizato, Kenichi Oshima, Yasuto Kunii, Hirooki Yabe, Junya Matsumoto, Akira Wada, Mizuki Hino, Takeshi Hashimoto, Akitoyo Hishimoto, Noboru Kitamura, Shuji Iritani…

    Citation: Molecular Cytogenetics 2015 8:46

    Content type: Research

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  22. Acute lymphoblastic leukemia (ALL) is not a single uniform disease. It consists of several subgroups with different cytogenetic and molecular genetic aberrations, clinical presentations and outcomes. Banding c...

    Authors: Moneeb A. K. Othman, Joana B. Melo, Isabel M. Carreira, Martina Rincic, Anita Glaser, Beata Grygalewicz, Bernd Gruhn, Kathleen Wilhelm, Katharina Rittscher, Britta Meyer, Maria Luiza Macedo Silva, Terezinha de Jesus Marques Salles and Thomas Liehr

    Citation: Molecular Cytogenetics 2015 8:45

    Content type: Research

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  23. Non-invasive prenatal testing (NIPT) is currently used as a frontline screening test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are conveyed to the clinician suggestive...

    Authors: Jingmei Ma, David S. Cram, Jianguang Zhang, Ling Shang, Huixia Yang and Hong Pan

    Citation: Molecular Cytogenetics 2015 8:44

    Content type: Case report

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  24. Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including co...

    Authors: Larissa Sampaio de Athayde Costa, Aline C. Zandona-Teixeira, Marilia M. Montenegro, Alexandre T. Dias, Roberta L. Dutra, Rachel S. Honjo, Debora R. Bertola, Leslie D. Kulikowski and Chong A. Kim

    Citation: Molecular Cytogenetics 2015 8:43

    Content type: Research

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  25. Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi...

    Authors: Laurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, Laurence Faivre, Marie Eliade, Muriel Payet, Clemence Ragon, Julien Thevenon, Bernard Aral, Sylviane Ragot, Azarnouche Ardalan, Nabila Dhouibi, Candace Bensignor, Christel Thauvin-Robinet, Salima El Chehadeh and Patrick Callier

    Citation: Molecular Cytogenetics 2015 8:42

    Content type: Case Report

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  26. Large amounts of low copy number repeats in the 15q11.2q13.3 chromosomal region increase the possibility of misalignments and unequal crossover during meiosis in this region, leading to deletions, duplications...

    Authors: Andras Szabo, Marta Czako, Kinga Hadzsiev, Balazs Duga, Katalin Komlosi and Bela Melegh

    Citation: Molecular Cytogenetics 2015 8:41

    Content type: Case Report

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  27. Histone H3 gene clusters have been described as highly conserved chromosomal markers in invertebrates. Surprisingly, in bivalves remarkable interspecific differences were found among the eight mussels and betw...

    Authors: Daniel García-Souto, Concepción Pérez-García, Paloma Morán and Juan J. Pasantes

    Citation: Molecular Cytogenetics 2015 8:40

    Content type: Research

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  28. The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the receptor-type protei...

    Authors: Nancy Choucair, Cecile Mignon-Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Laurent Villard and Eliane Chouery

    Citation: Molecular Cytogenetics 2015 8:39

    Content type: Case report

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  29. Aneuploidy is a leading cause of repeat implantation failure and recurrent miscarriages. Preimplantation genetic screening (PGS) enables the assessment of the numeral and structural chromosomal errors of embry...

    Authors: Haiyan Zheng, Hua Jin, Lian Liu, Jianqiao Liu and Wei-Hua Wang

    Citation: Molecular Cytogenetics 2015 8:38

    Content type: Methodology

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  30. Split hand-split food malformation (SHFM) is a congenital defect of limb development that involves the central rays of the autopod and presents with median clefts of the hands and feet. It often includes synda...

    Authors: Sara Delgado and Milen Velinov

    Citation: Molecular Cytogenetics 2015 8:37

    Content type: Case report

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  31. We report on a young female, who presents with a severe speech and language disorder and a balanced de novo complex chromosomal rearrangement, likely to have resulted from a chromosome 7 pericentromeric inversion...

    Authors: Daniela Moralli, Ron Nudel, May T. M. Chan, Catherine M. Green, Emanuela V. Volpi, Antonio Benítez-Burraco, Dianne F. Newbury and Paloma García-Bellido

    Citation: Molecular Cytogenetics 2015 8:36

    Content type: Research

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  32. An intrachromosomal amplification of chromosome 21 (iAMP21) defines a unique subgroup of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The finding of three or more extra copies of the RUNX1 gene by flu...

    Authors: Gerhard Fuka, Tállita M. Farias-Vieira, Leticia Hummel, Caroline B. Blunck, Júlio C. Santoro, Eugênia Terra-Granado, Thayana Conceição Barbosa, Mariana Emerenciano and Maria S. Pombo-de-Oliveira

    Citation: Molecular Cytogenetics 2015 8:35

    Content type: Methodology

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  33. Complete, isolated trisomy of the short arm of chromosome 18 is very rare. To date, only 24 cases of trisomy 18p have been reported in the literature, making it difficult to define a potentially associated phe...

    Authors: Guillaume Jedraszak, Henri Copin, Manuel Demailly, Catherine Quibel, Thierry Leclerc, Marlène Gallet, Moncef Benkhalifa and Aline Receveur

    Citation: Molecular Cytogenetics 2015 8:34

    Content type: Case report

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  34. Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological malignancies. In MDS patients with a fibrotic bone marrow the aspiration of cells often fails (dry-tap), which hampers standard...

    Authors: Marian JPL Stevens-Kroef, Konnie M Hebeda, Eugène T Verwiel, Eveline J Kamping, Patricia H van Cleef, Roland P Kuiper and Patricia JTA Groenen

    Citation: Molecular Cytogenetics 2015 8:33

    Content type: Research

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  35. All human chromosomes are capped by tandem repeat (TTAGGG)n sequences that protect them against end-to-end fusion and are essential to chromosomal replication and integrity. Therefore, after a chromosomal brea...

    Authors: Roberta Santos Guilherme, Karen E Hermetz, Patrícia Teixeira Varela, Ana Beatriz Alvarez Perez, Vera Ayres Meloni, M Katharine Rudd, Leslie Domenici Kulikowski and Maria Isabel Melaragno

    Citation: Molecular Cytogenetics 2015 8:32

    Content type: Research

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  36. Interstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype correlation has been determined yet.

    Authors: Elisa Tassano, Marisol Mirabelli-Badenier, Edvige Veneselli, Aldamaria Puliti, Margherita Lerone, Carlotta Maria Vaccari, Giovanni Morana, Simona Porta, Giorgio Gimelli and Cristina Cuoco

    Citation: Molecular Cytogenetics 2015 8:31

    Content type: Case Report

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  37. Human embryonic stem cells exhibit genomic instability that can be related to culture duration or to the passaging methods used for cell dissociation. In order to study the impact of cell dissociation techniqu...

    Authors: Lucie Tosca, Olivier Feraud, Aurélie Magniez, Cécile Bas, Frank Griscelli, Annelise Bennaceur-Griscelli and Gérard Tachdjian

    Citation: Molecular Cytogenetics 2015 8:30

    Content type: Research

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  38. Ring chromosome 10 is a rare cytogenetic finding. Only a few cases with molecular cytogenetic definition have been reported. We report here on a child with a ring chromosome 10, which is associated with prenat...

    Authors: Živilė Čiuladaitė, Birutė Burnytė, Danutė Vansevičiūtė, Evelina Dagytė, Vaidutis Kučinskas and Algirdas Utkus

    Citation: Molecular Cytogenetics 2015 8:29

    Content type: Case report

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  39. Knowledge of the karyotypes of cancer cells is the theoretical underpinning of diagnostic/prognostic DNA-cytometry. Currently the translation is hampered by different terminologies of both fields. The followin...

    Authors: Alfred Böcking

    Citation: Molecular Cytogenetics 2015 8:28

    Content type: Letter

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  40. The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations ...

    Authors: Emiy Yokoyama-Rebollar, Adriana Ruiz-Herrera, Esther Lieberman-Hernández, Victoria Del Castillo-Ruiz, Silvia Sánchez-Sandoval, Silvia M Ávila-Flores and José Luis Castrillo

    Citation: Molecular Cytogenetics 2015 8:27

    Content type: Case report

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  41. Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use ...

    Authors: Nancy Choucair, Joelle Abou Ghoch, Sandra Corbani, Pierre Cacciagli, Cecile Mignon-Ravix, Nabiha Salem, Nadine Jalkh, Sandra El Sabbagh, Ali Fawaz, Tony Ibrahim, Laurent Villard, André Mégarbané and Eliane Chouery

    Citation: Molecular Cytogenetics 2015 8:26

    Content type: Research

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  42. Aflatoxin B1 (AFB1) is a mycotoxin produced by Aspergillus spec. The latter are worldwide contaminants of food with mutagenic and carcinogenic activities in animals and humans. AFB1 was shown to have deleterious ...

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

    Citation: Molecular Cytogenetics 2015 8:25

    Content type: Research

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  43. In this study we performed molecular characterization of a patient with an extra ring chromosome derived from chromosome 14, with severe intellectual disability, epilepsy, cerebral paresis, tetraplegia, osteop...

    Authors: Daniela Alosi, Laura Line Klitten, Mads Bak, Helle Hjalgrim, Rikke Steensbjerre Møller and Niels Tommerup

    Citation: Molecular Cytogenetics 2015 8:24

    Content type: Case Report

    Published on:

  44. The Editors of Molecular Cytogenetics would like to thank all our reviewers who have contributed to the journal in volume 7 (2014).

    Authors: Thomas Liehr, Henry Heng, Yuri Yurov, Aurelia Meloni-Ehrig and Ivan Iourov

    Citation: Molecular Cytogenetics 2015 8:23

    Content type: Reviewer acknowledgement

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  45. Wide genome screening through array comparative genomic hybridization made possible the recognition of the novel 19q13.11 deletion syndrome. There are very few cases reported with this deletion, but clinically...

    Authors: Joana B Melo, Alexandra Estevinho, Jorge Saraiva, Lina Ramos and Isabel M Carreira

    Citation: Molecular Cytogenetics 2015 8:21

    Content type: Research

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  46. KBG syndrome, a rare autosomal disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by haploinsufficiency of the ANKRD11 gene.

    Authors: Milena Crippa, Daniela Rusconi, Chiara Castronovo, Ilaria Bestetti, Silvia Russo, Anna Cereda, Angelo Selicorni, Lidia Larizza and Palma Finelli

    Citation: Molecular Cytogenetics 2015 8:20

    Content type: Case report

    Published on:

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