Molecular Cytogenetics - oalib

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Molecular Cytogenetics

ISSN Print: 1755-8166

ISSN Online:

主页: http://www.molecularcytogenetics.org

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Generation of multicolor banding probes for chromosomes of different species

Kosyakova Nadezda,Hamid Ahmed Basheer,Chaveerach Arunrat,Pinthong Krit

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Di Benedetto Daniela,Di Vita Giuseppa,Romano Corrado,Giudice Mariangela Lo

Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines

Kim Young Mi,Lee Ji-Yun,Xia Lijun,Mulvihill John J

A specific family of interspersed repeats (SINEs) facilitates meiotic synapsis in mammals

Johnson Matthew E,Rowsey Ross A,Shirley Sofia,VandeVoort Catherine

7q36 deletion and 9p22 duplication: effects of a double imbalance

Pelegrino Karla de,Sugayama Sofia,Catelani Ana,Lezirovitz Karina

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

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, Charles M Strom

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

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

Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder

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

A novel unbalanced de novo translocation der(5)t(4;5)(q26;q21.1) in adult T-cell precursor lymphoblastic leukemia

Eigil Kjeldsen, Anne Stidsholt Roug

A novel five-way translocation t(7;11;9;22;9)(q22;q13;q34;q11.2;q34) involving Ph chromosome in a patient of chronic myeloid leukemia: a case report

Sho Yokota, Yuichi Nakamura, Masami Bessho

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies

Daniel L Di Bartolo, Mohamed El Naggar, Renius Owen, Trilochan Sahoo, Fred Gilbert, Venkat R Pulijaal, Susan Mathew

Investigating the role of X chromosome breakpoints in premature ovarian failure

Simona Baronchelli, Nicoletta Villa, Serena Redaelli, Sara Lissoni, Fabiana Saccheri, Elena Panzeri, Donatella Conconi, Angela Bentivegna, Francesca Crosti, Elena Sala, Francesca Bertola, Anna Marozzi, Antonio Pedicini, Maraluisa Ventruto, Maria Adalgisa Police, Leda Dalprà

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

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, Ana B A Perez

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

Karin Huijsdens-van Amsterdam, Daniela QCM Barge-Schaapveld, Inge B Mathijssen, Mari？lle Alders, Eva Pajkrt, Alida C Knegt

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

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

High rates of de novo 15q11q13 inversions in human spermatozoa

òscar Molina, Ester Anton, Francesca Vidal, Joan Blanco

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

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

Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

Deling Li, Mustafa Tekin, Maria Buch, Yao-Shan Fan

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

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

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

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

Analysis of ZAP70 expression in adult acute lymphoblastic leukaemia by real time quantitative PCR

Geothy Chakupurakal, Andrew Bell, Mike Griffiths, Farooq Wandroo, Paul Moss

Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study

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

Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics

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

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

Milene Vianna Mulatinho, Cassio Luiz de Carvalho Serao, Fernanda Scalco, David Hardekopf, Sona Pekova, Kristin Mrasek, Thomas Liehr, Anja Weise, Nagesh Rao, Juan Clinton Llerena

BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative disease

Mohamed M Elnaggar, Sally Agersborg, Trilochan Sahoo, Ati Girgin, Wnlong Ma, Ronjay Rakkhit, Isabel Zorrilla, Alexis Leal

Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review

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

The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system

Marcelo de Bello Cioffi, Eduard Kejnovsky, Vinicius Marquioni, Juliana Poltronieri, Wagner Franco Molina, Débora Diniz, Luiz Antonio Carlos Bertollo

CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens

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

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

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

Cytomolecular characterization of de novo formed rye B chromosome variants

André Marques, Sonja Klemme, Marcelo Guerra, Andreas Houben

Neocentric X-chromosome in a girl with Turner-like syndrome

Morteza Hemmat, Boris T Wang, Peter E Warburton, Xiaojing Yang, Fatih Z Boyar, Mohammed El-Naggar, Arturo Anguiano

A recurrent translocation is mediated by homologous recombination between HERV-H elements

Karen E Hermetz, Urvashi Surti, Jannine D Cody, M Katharine Rudd

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

Ashutosh Halder, Manish Jain, Isha Chaudhary, Binuja Varma

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

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, Robert-Jan H Galjaard

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

Susana Isabel Ferreira, Eunice Matoso, Margarida Venancio, Jorge Saraiva, Joana B Melo, Isabel Marques Carreira

Exosome-delivered microRNAs of “chromosome 19 microRNA cluster” as immunomodulators in pregnancy and tumorigenesis

J？rn Bullerdiek, Inga Flor

Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion

Jinsong Gao, Congcong Liu, Fengxia Yao, Na Hao, Jing Zhou, Qian Zhou, Liang Zhang, Xinyan Liu, Xuming Bian, Juntao Liu

"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements

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

Prolonged exposure to acid and bile induces chromosome abnormalities that precede malignant transformation of benign Barrett’s epithelium

Bajpai Manisha,Aviv Hana,Das Kiron M

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies

Filges Isabel,Kang Anjeung,Klug Vanessa,Wenzel Friedel

Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas

Dai Zunyan,Kelly JoAnn C,Meloni-Ehrig Aurelia,Slovak Marilyn L

Activation of the two microRNA clusters C19MC and miR-371-3 does not play prominent role in thyroid cancer

Rippe Volkhard,Flor Inga,Debler Johannes,Drieschner Norbert

Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes

Marletta Cristina,Valli Roberto,Pressato Barbara,Mare Lydia

Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization

Zakaria Zubaidah,Ahid Mohd Fadly Md,Ismail Azli,Keoh Ten Sew

Chromosome mapping of repetitive sequences in Anostomidae species: implications for genomic and sex chromosome evolution

da Silva Edson Louren？o,de Borba Rafael Splendore,Parise-Maltempi Patrícia Pasquali

A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia

Al-achkar Walid,Wafa Abdulsamad,Moassass Faten,Othman Moneeb Abdullah

Chromosome abnormalities in Indonesian patients with short stature

Paramayuda Chrysantine,Kartapradja Hannie,Ambarwati Debby D,Anggaratri Helena W

Characterization of telomeric repeats in metaphase chromosomes and interphase nuclei of Syrian Hamster Fibroblasts

Solovjeva Liudmila V,Demin Sergey,Pleskach Nadezhda M,Kuznetsova Maria O

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

Iourov Ivan Y,Vorsanova Svetlana G,Kurinnaia Oxana S,Zelenova Maria A

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