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

Author(s): Johnson Matthew E | Rowsey Ross A | Shirley Sofia | VandeVoort Catherine | Bailey Jeffrey | Hassold Terry
Volume: 6
Issue: 1
Year: 2013

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

Author(s): Kim Young Mi | Lee Ji-Yun | Xia Lijun | Mulvihill John J | Li Shibo
Volume: 6
Issue: 1
Year: 2013

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

Author(s): Pelegrino Karla de | Sugayama Sofia | Catelani Ana | Lezirovitz Karina | Kok Fernando | Chauffaille Maria de
Volume: 6
Issue: 1
Year: 2013

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

Author(s): Di Benedetto Daniela | Di Vita Giuseppa | Romano Corrado | Giudice Mariangela Lo | Vitello Girolamo Aurelio | Zingale Marinella | Grillo Lucia | Castiglia Lucia | Musumeci Sebastiano Antonino | Fichera Marco
Volume: 6
Issue: 1
Year: 2013

Generation of multicolor banding probes for chromosomes of different species

Author(s): Kosyakova Nadezda | Hamid Ahmed Basheer | Chaveerach Arunrat | Pinthong Krit | Siripiyasing Pornnarong | Supiwong Weerayuth | Romanenko Svetlana | Trifonov Vladimir | Fan Xiaobo
Volume: 6
Issue: 1
Year: 2013

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

Author(s): Cioffi Marcelo de Bello | Kejnovský Eduard | Marquioni Vinicius | Poltronieri Juliana | Molina Wagner F | Diniz Débora | Bertollo Luiz Antonio C
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Hu Xiaoxia | Chen Haiying | Jin Meishan | Wang Xianfu | Lee Jiyun | Xu Weihong | Zhang Rui | Li Shibo | Niu Junqi
Volume: 5
Issue: 1
Year: 2012

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

Author(s): da Silva Edson Lourenço | de Borba Rafael Splendore | Parise-Maltempi Patrícia Pasquali
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Hemmat Morteza | Wang Boris T | Warburton Peter E | Yang Xiaojing | Boyar Fatih Z | El Naggar Mohammed | Anguiano Arturo
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Bajpai Manisha | Aviv Hana | Das Kiron M
Volume: 5
Issue: 1
Year: 2012

High rates of de novo 15q11q13 inversions in human spermatozoa

Author(s): Molina Òscar | Anton Ester | Vidal Francesca | Blanco Joan
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Solovjeva Liudmila V | Demin Sergey | Pleskach Nadezhda M | Kuznetsova Maria O | Svetlova Maria P
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Bullerdiek Jörn | Flor Inga
Volume: 5
Issue: 1
Year: 2012

Investigating the role of X chromosome breakpoints in premature ovarian failure

Author(s): Baronchelli Simona | Villa Nicoletta | Redaelli Serena | Lissoni Sara | Saccheri Fabiana | Panzeri Elena | Conconi Donatella | Bentivegna Angela | Crosti Francesca | Sala Elena | Bertola Francesca | Marozzi Anna | Pedicini Antonio | Ventruto Marialuisa | Police Maria | Dalprà Leda
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Rafati Maryam | Ghadirzadeh Mohammad R | Heshmati Yaser | Adibi Homeira | Keihanidoust Zarrintaj | Eshraghian Mohammad R | Dastan Jila | Hoseini Azadeh | Purhoseini Marzieh | Ghaffari Saeed R
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Rippe Volkhard | Flor Inga | Debler Johannes | Drieschner Norbert | Rommel Birgit | Krause Daniel | Junker Klaus | Bullerdiek Jörn
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Li Deling | Tekin Mustafa | Buch Maria | Fan Yao-Shan
Volume: 5
Issue: 1
Year: 2012

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

Author(s): MacKinnon Ruth N | Selan Carly | Zordan Adrian | Wall Meaghan | Nandurkar Harshal | Campbell Lynda J
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Ferreira Susana | Matoso Eunice | Venâncio Margarida | Saraiva Jorge | Melo Joana B | Carreira Isabel
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Rafati Maryam | Seyyedaboutorabi Elaheh | Ghadirzadeh Mohammad R | Heshmati Yaser | Adibi Homeira | Keihanidoust Zarrintaj | Eshraghian Mohammad R | Javadi Gholam | Dastan Jila | Mosavi-Jarrahi Alireza | Hoseini Azadeh | Purhoseini Marzieh | Ghaffari Saeed R
Volume: 5
Issue: 1
Year: 2012

Chromosome abnormalities in Indonesian patients with short stature

Author(s): Paramayuda Chrysantine | Kartapradja Hannie | Ambarwati Debby D | Anggaratri Helena W | Suciati Lita P | Marzuki Nanis S | Harahap Alida
Volume: 5
Issue: 1
Year: 2012

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

Author(s): de Bello Cioffi Marcelo | Kejnovský Eduard | Marquioni Vinicius | Poltronieri Juliana | Molina Wagner | Diniz Débora | Bertollo Luiz Antonio
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Dai Zunyan | Kelly JoAnn C | Meloni-Ehrig Aurelia | Slovak Marilyn L | Boles Debra | Christacos Nicole C | Bryke Christine R | Schonberg Steven A | Otani-Rosa Jennifer | Pan Qiulu | Ho Albert K | Sanders Heather R | Zhang Zhong J | Jones Dan | Mowrey Philip N
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Yang Zhihong | Liu Jiaen | Collins Gary S | Salem Shala A | Liu Xiaohong | Lyle Sarah S | Peck Alison C | Sills E | Salem Rifaat D
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Robberecht Caroline | Voet Thierry | Utine Gülen E | Schinzel Albert | de Leeuw Nicole | Fryns Jean-Pierre | Vermeesch Joris
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Klein Elisabeth | Manvelyan Marina | Simonyan Isabella | Hamid Ahmed B | Guilherme Roberta | Liehr Thomas | Karamysheva Tatyana
Volume: 5
Issue: 1
Year: 2012

Cytomolecular characterization of de novo formed rye B chromosome variants

Author(s): Marques André | Klemme Sonja | Guerra Marcelo | Houben Andreas
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Al-achkar Walid | Wafa Abdulsamad | Moassass Faten | Othman Moneeb Abdullah
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Filges Isabel | Kang Anjeung | Klug Vanessa | Wenzel Friedel | Heinimann Karl | Tercanli Sevgi | Miny Peter
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Anguiano Arturo | Wang Boris T | Wang Shirong R | Boyar Fatih Z | Mahon Loretta W | El Naggar Mohamed M | Kohn Peter H | Haddadin Mary H | Sulcova Vladimira | Sbeiti Adam H | Ayad Mervat S | White Beverly J | Strom Charles M
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Elnaggar Mohamed M | Agersborg Sally | Sahoo Trilochan | Girgin Ati | Ma Wanlong | Rakkhit Ronjay | Zorrilla Isabel | Leal Alexis
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Gao Jinsong | Liu Congcong | Yao Fengxia | Hao Na | Zhou Jing | Zhou Qian | Zhang Liang | Liu Xinyan | Bian Xuming | Liu Juntao
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Colovati Mileny ES | da Silva Luciana RJ | Takeno Sylvia S | Mancini Tatiane I | N Dutra Ana R | Guilherme Roberta S | de Mello Cláudia B | Melaragno Maria I | A Perez Ana B
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Finelli Palma | Sirchia Silvia | Masciadri Maura | Crippa Milena | Recalcati Maria | Rusconi Daniela | Giardino Daniela | Monti Laura | Cogliati Francesca | Faravelli Francesca | Natacci Federica | Zoccante Leonardo | Bernardina Bernardo | Russo Silvia | Larizza Lidia
Volume: 5
Issue: 1
Year: 2012

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Author(s): Celestino-Soper Patrícia BS | Skinner Cindy | Schroer Richard | Eng Patricia | Shenai Jayant | Nowaczyk Malgorzata MJ | Terespolsky Deborah | Cushing Donna | Patel Gayle S | Immken LaDonna | Willis Alecia | Wiszniewska Joanna | Matalon Reuben | Rosenfeld Jill A | Stevenson Roger E | Kang Sung-Hae L | Cheung Sau | Beaudet Arthur L | Stankiewicz Pawel
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Chakupurakal Geothy | Bell Andrew | Griffiths Mike | Wandroo Farooq | Moss Paul
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Mulatinho Milene | de Carvalho Serao Cassio | Scalco Fernanda | Hardekopf David | Pekova Sona | Mrasek Kristin | Liehr Thomas | Weise Anja | Rao Nagesh | Llerena Juan
Volume: 5
Issue: 1
Year: 2012

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

Author(s): Huijsdens-van Amsterdam Karin | Barge-Schaapveld Daniela QCM | Mathijssen Inge B | Alders Mariëlle | Pajkrt Eva | Knegt Alida C
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Halder Ashutosh | Jain Manish | Chaudhary Isha | Varma Binuja
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Yokota Sho | Nakamura Yuichi | Bessho Masami
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Srebniak Malgorzata I | Boter Marjan | Oudesluijs Gretel O | Cohen-Overbeek Titia | Govaerts Lutgarde CP | Diderich Karin EM | Oegema Renske | Knapen Maarten FCM | van de Laar Ingrid MBH | Joosten Marieke | Van Opstal Diane | Galjaard Robert-Jan H
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Di Bartolo Daniel L | El Naggar Mohamed | Owen Renius | Sahoo Trilochan | Gilbert Fred | Pulijaal Venkat R | Mathew Susan
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Sifakis Stavros | Manolakos Emmanouil | Vetro Annalisa | Kappou Dimitra | Peitsidis Panagiotis | Kontodiou Maria | Garas Antonios | Vrachnis Nikolaos | Konstandinidou Anastasia | Zuffardi Orsetta | Orru Sandro | Papoulidis Ioannis
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Kjeldsen Eigil | Roug Anne
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Kooper Angelique JA | Pieters Jacqueline JPM | Faas Brigitte HW | Hoefsloot Lies H | van der Burgt Ineke | Zondervan Hans A | Smits Arie PT
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Hermetz Karen E | Surti Urvashi | Cody Jannine D | Rudd M Katharine
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Zakaria Zubaidah | Ahid Mohd Fadly Md | Ismail Azli | Keoh Ten Sew | Nor Nooraisyah Mohamad | Kamaluddin Nor Rizan | Esa Ezalia | Yuen Lam Kah | Rahman Eni Juraida Abdul | Osman Raudhawati
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Iourov Ivan Y | Vorsanova Svetlana G | Kurinnaia Oxana S | Zelenova Maria A | Silvanovich Alexandra P | Yurov Yuri B
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Palumbo Orazio | Palumbo Pietro | Palladino Teresa | Stallone Raffaella | Zelante Leopoldo | Carella Massimo
Volume: 5
Issue: 1
Year: 2012

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

Author(s): Graw Sharon L | Swisshelm Karen | Floyd Kirsten | Carstens Billie J | Wamboldt Marianne Z | Ross Randall G | Leonard Sherry
Volume: 5
Issue: 1
Year: 2012