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  1. Case Report

    7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

    Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of f...

    Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria del Castillo and Sara Frías

    Molecular Cytogenetics 2017 10:42

    Published on: 15 November 2017

  2. Research

    The exon junction complex factor Y14 is dynamic in the nucleus of the beetle Tribolium castaneum during late oogenesis

    The oocyte chromosomes of the red flour beetle, Tribolium castaneum, are gathered into a knot, forming a karyosphere at the diplotene stage of meiotic prophase. Chromatin rearrangement, which is a characteristic ...

    Artem M. Kiselev, Irina S. Stepanova, Leonid S. Adonin, Florina M. Batalova, Vladimir N. Parfenov, Dmitry S. Bogolyubov and Olga I. Podgornaya

    Molecular Cytogenetics 2017 10:41

    Published on: 9 November 2017

  3. Case Report

    A case of placental trisomy 18 mosaicism causing a false negative NIPT result

    The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolution...

    Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY and Aihua Yin

    Molecular Cytogenetics 2017 10:40

    Published on: 27 October 2017

  4. Case Report

    Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15

    Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the...

    Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B. H. Al-Rikabi, Krati Shah, Jayesh Sheth and Frenny Sheth

    Molecular Cytogenetics 2017 10:38

    Published on: 25 October 2017

  5. Research

    Comparative cytogenetics in three Sciaenid species (Teleostei, Perciformes): evidence of interspecific chromosomal diversification

    Species belonging to the Sciaenidae family present a karyotype composed by 48 acrocentric chromosomes and are thus considered a striking example of chromosomal conservation. In this family, three species are e...

    Dongdong Xu, Wagner Franco Molina, Cassia Fernanda Yano, Yurong Zhang, Ezequiel Aguiar de Oliveira, Bao Lou and Marcelo de Bello Cioffi

    Molecular Cytogenetics 2017 10:37

    Published on: 23 October 2017

  6. Case Report

    Mosaic UPD(7q)mat in a patient with silver Russell syndrome

    Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of S...

    Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang and Yiping Shen

    Molecular Cytogenetics 2017 10:36

    Published on: 17 October 2017

  7. Case Report

    A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome

    Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is cons...

    Daiane Correa de Souza, Amanda Faria de Figueiredo, Daniela R. Ney Garcia, Elaine Sobral da Costa, Moneeb A.K. Othman, Thomas Liehr, Eliana Abdelhay, Maria Luiza Macedo Silva and Teresa de Souza Fernandez

    Molecular Cytogenetics 2017 10:35

    Published on: 11 September 2017

  8. Case Report

    CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1

    Homozygous mutations and deletions of the microcephalin gene (MCPH1; OMIM *607117) have been identified as a cause of autosomal recessive primary microcephaly and intellectual disability (MIM #251200). Previous s...

    Morteza Hemmat, Melissa J Rumple, Loretta W Mahon, Melanie Morrow, Tamara Zach, Arturo Anguiano, Mohamed M Elnaggar, Boris T Wang and Fatih Z Boyar

    Molecular Cytogenetics 2017 10:33

    Published on: 5 September 2017

  9. Research

    Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations

    Carriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified...

    Darinka Šumanović-Glamuzina, Bernarda Lozić, Piotr S. Iwanowski, Tatijana Zemunik, Zeljka Bilinovac, Beata Stasiewicz-Jarocka, Barbara Panasiuk and Alina T. Midro

    Molecular Cytogenetics 2017 10:29

    Published on: 4 August 2017

  10. Research

    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

    Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have...

    Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine and Thomas Eggermann

    Molecular Cytogenetics 2017 10:28

    Published on: 25 July 2017

  11. Methodology

    Optimization of proximity ligation assay (PLA) for detection of protein interactions and fusion proteins in non-adherent cells: application to pre-B lymphocytes

    Genetic abnormalities, including chromosomal translocations, are described for many hematological malignancies. From the clinical perspective, detection of chromosomal abnormalities is relevant not only for di...

    Lydie Debaize, Hélène Jakobczyk, Anne-Gaëlle Rio, Virginie Gandemer and Marie-Bérengère Troadec

    Molecular Cytogenetics 2017 10:27

    Published on: 20 July 2017

  12. Research

    Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma

    Our aim was to set the FISH combination of del(17p13), t(4;14), 1q21 gain and del(1p32), four adverse cytogenetic factors rarely evaluated together, and compare our technical thresholds with those defined in t...

    Thomas Smol, Annika Dufour, Sabine Tricot, Mathieu Wemeau, Laure Stalnikiewicz, Franck Bernardi, Christine Terré, Benoît Ducourneau, Hervé Bisiau and Agnès Daudignon

    Molecular Cytogenetics 2017 10:26

    Published on: 1 July 2017

  13. Research

    Scattered genomic amplification in dedifferentiated liposarcoma

    Atypical lipomatous tumor (ALT), well differentiated liposarcoma (WDLS) and dedifferentiated liposarcoma (DDLS) are cytogenetically characterized by near-diploid karyotypes with no or few other aberrations tha...

    Nils Mandahl, Linda Magnusson, Jenny Nilsson, Björn Viklund, Elsa Arbajian, Fredrik Vult von Steyern, Anders Isaksson and Fredrik Mertens

    Molecular Cytogenetics 2017 10:25

    Published on: 24 June 2017

  14. Meeting abstracts

    Abstracts from the 3rd Conference on Aneuploidy and Cancer: Clinical and Experimental Aspects

    Athel Cornish-Bowden, Athel Cornish-Bowden, David Rasnick, Henry H. Heng, Steven Horne, Batoul Abdallah, Guo Liu, Christine J. Ye, Mathew Bloomfield, Mark D. Vincent, C. Marcelo Aldaz, Jenny Karlsson, Anders Valind, Caroline Jansson, David Gisselsson, Jennifer A. Marshall Graves…

    Molecular Cytogenetics 2017 10(Suppl 2):21

    Published on: 22 June 2017

    This article is part of a Supplement: Volume 10 Supplement 2

  15. Case Report

    Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review

    Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limit...

    Jie Hu, Zhishuo Ou, Elena Infante, Sally J. Kochmar, Suneeta Madan-Khetarpal, Lori Hoffner, Shafagh Parsazad and Urvashi Surti

    Molecular Cytogenetics 2017 10:24

    Published on: 19 June 2017

  16. Case Report

    A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning

    Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosom...

    N. Villa, D. Conconi, D. Gambel Benussi, G. Tornese, F. Crosti, E. Sala, L. Dalprà and V. Pecile

    Molecular Cytogenetics 2017 10:22

    Published on: 13 June 2017

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