Articles

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitativ...

Authors: Bernd Auber, Verena Bruemmer, Barbara Zoll, Peter Burfeind, Detlef Boehm, Thomas Liehr, Knut Brockmann, Ekkehard Wilichowski, Loukas Argyriou and Iris Bartels

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

Proximal 22q is rich in low copy repeats (LCRs) which mediate non-allelic homologous recombination and give rise to deletions and duplications of varying size depending on which LCRs are involved.

Authors: Caroline Mackie Ogilvie, Joo Wook Ahn, Kathy Mann, Roland G Roberts and Frances Flinter

Erratum to: Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Authors: Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Katerina Anagnostopoulou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr and Aikaterini Metaxotou

Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia

Children with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) also called acute myeloid leukemia (AML) type M7. Here four yet unreported...

Authors: Maria Luiza Macedo Silva, Maria do Socorro Pombo-de-Oliveira, Susana C Raimondi, Hasmik Mkrtchyan, Eliana Abdelhay, Amanda Faria de Figueiredo, Mariana Tavares de Souza, Daniela Ribeiro Ney Garcia, Eliane Maria Soares de Ventura, Adriana Martins de Sousa and Thomas Liehr

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromoso...

Authors: Gitte J Almind, Karen Brøndum-Nielsen, Regitze Bangsgaard, Peter Baekgaard and Karen Grønskov

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes

Characterization of disease-associated balanced translocations has led to the discovery of genes responsible for many disorders, including syndromes that include various forms of diabetes mellitus. We studied ...

Authors: Elizabeth J Bhoj, Stefano Romeo, Marco G Baroni, Guy Bartov, Roger A Schultz and Andrew R Zinn

The hierarchically organized splitting of chromosomal bands for all human chromosomes

Chromosome banding is widely used in cytogenetics. However, the biological nature of hierarchically organized splitting of chromosomal bands of human chromosomes is an enigma and has not been, as yet, studied.

Authors: Nadezda Kosyakova, Anja Weise, Kristin Mrasek, Uwe Claussen, Thomas Liehr and Heike Nelle

Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier

Ring chromosomes are normally associated with developmental anomalies and are rarely inherited. An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to inves...

Authors: Anna Mantzouratou, Anastasia Mania, Marianna Apergi, Sarah Laver, Paul Serhal and JDA Delhanty

Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

Complex chromosome rearrangements (CCRs), which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, ...

Authors: Roland Haj, Kelly Jackson, Beth A Torchia, Lisa G Shaffer, Bassem A Bejjani, Gordon C Gowans and Michael E Ruff

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated...

Authors: Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr and Aikaterini Metaxotou

Validation of DNA probes for molecular cytogenetics by mapping onto immobilized circular DNA

Fluorescence in situ hybridization (FISH) is a sensitive and rapid procedure to detect gene rearrangements in tumor cells using non-isotopically labeled DNA probes. Large insert recombinant DNA clones such as bac...

Authors: Karin M Greulich-Bode, Mei Wang, Andreas P Rhein, Jingly F Weier and Heinz-Ulli G Weier

De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

In routine Assisted Reproductive Technology (ART) men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the b...

Authors: Serdar Kasakyan, Laurence Lohmann, Azeddine Aboura, Mazin Quimsiyeh, Yves Menezo, Gerard Tachdjian and Moncef Benkhalifa

Chromosomal mosaicism goes global

Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploid...

Authors: Ivan Y Iourov, Svetlana G Vorsanova and Yuri B Yurov

Chromosome distribution in human sperm – a 3D multicolor banding-study

Nuclear architecture studies in human sperm are sparse. By now performed ones were practically all done on flattened nuclei. Thus, studies close at the in vivo state of sperm, i.e. on three-dimensionally conserve...

Authors: Marina Manvelyan, Friederike Hunstig, Samarth Bhatt, Kristin Mrasek, Franck Pellestor, Anja Weise, Isabella Simonyan, Rouben Aroutiounian and Thomas Liehr

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with ...

Authors: Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr and Michael B Petersen

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

Jacobsen syndrome is a rare contiguous gene disorder that results from a terminal deletion of the long arm of chromosome 11. It is typically characterized by intellectual disability, a variety of physical anom...

Authors: Christine Tyson, Ying Qiao, Chansonette Harvard, Xudong Liu, Francois P Bernier, Barbara McGillivray, Sandra A Farrell, Laura Arbour, Albert E Chudley, Lorne Clarke, William Gibson, Sarah Dyack, Ross McLeod, Teresa Costa, Margot I VanAllen, Siu-li Yong…

Rapid and reliable diagnosis of murine myeloid leukemia (ML) by FISH of peripheral blood smear using probe of PU. 1, a candidate ML tumor suppressor

Murine myeloid leukemia (ML) provides a good animal model to study the mechanisms of radiation-induced leukemia in humans. This disease has been cytogenetically characterized by a partial deletion of chromosom...

Authors: Reiko Kanda, Satsuki Tsuji, Yasushi Ohmachi, Yuka Ishida, Nobuhiko Ban and Yoshiya Shimada

On the origin of trisomy 21 Down syndrome

Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 most often originates...

Authors: Maj A Hultén, Suketu D Patel, Maira Tankimanova, Magnus Westgren, Nikos Papadogiannakis, Anna Maria Jonsson and Erik Iwarsson

Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity

Malignant melanomas are characterized by increased karyotypic complexity, extended aneuploidy and heteroploidy. We report a melanoma metastasis to the peritoneal cavity with an exceptionally stable, abnormal p...

Authors: Sarantis Gagos, George Papaioannou, Maria Chiourea, Sophie Merk-Loretti, Charles-Edward Jefford, Panagiota Mikou, Irmgard Irminger-Finger, Anna Liossi, Jean-Louis Blouin and Sophie Dahoun

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

Small supernumerary marker chromosomes (sSMC) occur in 0.075% of unselected prenatal and in 0.044% of consecutively studied postnatal cases. Individuals with sSMC present with varying phenotype, ranging from n...

Authors: Sabita K Murthy, Ashok K Malhotra, Preenu S Jacob, Sehba Naveed, Eman EM Al-Rowaished, Sara Mani, Shabeer Padariyakam, R Pramathan, Ravi Nath, Mahmoud Taleb Al-Ali and Lihadh Al-Gazali

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occ...

Authors: Ashutosh Halder, Manish Jain, Madhulika Kabra and Neerja Gupta

Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding

Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromoso...

Authors: Nilüfer Karadeniz, Kristin Mrasek and Anja Weise

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient present...

Authors: Oleg A Shchelochkov, M Lance Cooper, Zhishuo Ou, Sandra Peacock, Svetlana A Yatsenko, Chester W Brown, Ping Fang, Pawel Stankiewicz and Sau Wai Cheung

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12 patients, six de n...

Authors: Carolina Sismani, Sofia Kitsiou-Tzeli, Marios Ioannides, Christodoulos Christodoulou, Violetta Anastasiadou, Goula Stylianidou, Eleftheria Papadopoulou, Emanuel Kanavakis, Zoe Kosmaidou-Aravidou and Philippos C Patsalis

FISH mapping of Philadelphia negative BCR/ABL1 positive CML

Chronic myeloid leukaemia (CML) is a haematopoietic stem cell disorder, almost always characterized by the presence of the Philadelphia chromosome (Ph), usually due to t(9;22)(q34;q11) or its variants. The Ph ...

Authors: Anna Virgili, Diana Brazma, Alistair G Reid, Julie Howard-Reeves, Mikel Valgañón, Anastasios Chanalaris, Valeria AS De Melo, David Marin, Jane F Apperley, Colin Grace and Ellie P Nacheva

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

Autosomal monosomies in human are generally suggested to be incompatible with life; however, there is quite a number of cytogenetic reports describing full monosomy of one chromosome 21 in live born children. ...

Authors: Svetlana G Vorsanova, Ivan Y Iourov, Victoria Y Voinova-Ulas, Anja Weise, Victor V Monakhov, Alexei D Kolotii, Ilia V Soloviev, Petr V Novikov, Yuri B Yurov and Thomas Liehr

Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

Small supernumerary marker chromosomes (sSMC) and B-chromosomes represent a heterogeneous collection of chromosomes added to the typical karyotype, and which are both small in size. They may consist of heteroc...

Authors: Thomas Liehr, Kristin Mrasek, Nadezda Kosyakova, Caroline Mackie Ogilvie, Joris Vermeesch, Vladimir Trifonov and Nikolai Rubtsov

Chromosomal assignment of canine THADA gene to CFA 10q25

Chromosomal translocations affecting the chromosome 2p21 cluster in a 450 kb breakpoint region are frequently observed in human benign thyroid adenomas. THADA (thyroid adenoma associated) was identified as the af...

Authors: Jan T Soller, Claudia Beuing, Hugo Murua Escobar, Susanne Winkler, Nicola Reimann-Berg, Norbert Drieschner, Gaudenz Dolf, Claude Schelling, Ingo Nolte and Jörn Bullerdiek

Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization

Routine cytogenetic investigations for ovarian cancers are limited by culture failure and poor growth of cancer cells compared to normal cells. Fluorescence in situ Hybridization (FISH) application or classical c...

Authors: Donatella Caserta, Moncef Benkhalifa, Marina Baldi, Francesco Fiorentino, Mazin Qumsiyeh and Massimo Moscarini

Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon

Even though comparative nuclear architecture studies in hominoids are sparse, nuclear chromosome architecture was shown to be conserved during hominoid evolution. Thus, it is suspected that yet unknown biologi...

Authors: Marina Manvelyan, Friederike Hunstig, Kristin Mrasek, Samarth Bhatt, Franck Pellestor, Anja Weise and Thomas Liehr

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. G...

Authors: Blake C Ballif, Aaron Theisen, Justine Coppinger, Gordon C Gowans, Joseph H Hersh, Suneeta Madan-Khetarpal, Karen R Schmidt, Raymond Tervo, Luis F Escobar, Christopher A Friedrich, Marie McDonald, Lindsey Campbell, Jeffrey E Ming, Elaine H Zackai, Bassem A Bejjani and Lisa G Shaffer

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

Supernumerary marker chromosomes (SMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified by conventional banding techniques. In the past, SMCs have been characterized using a...

Authors: Karen D Tsuchiya, Kent E Opheim, Mark C Hannibal, Anne V Hing, Ian A Glass, Michael L Raff, Thomas Norwood and Beth A Torchia

Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 10⁶ human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal o...

Authors: Vladimir Trifonov, Simon Fluri, Franz Binkert, Adayapalam Nandini, Jasen Anderson, Laura Rodriguez, Madeleine Gross, Nadezda Kosyakova, Hasmik Mkrtchyan, Elisabeth Ewers, Daniela Reich, Anja Weise and Thomas Liehr

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

Fragile X syndrome (OMIM #300624) is the most common, recognised, heritable cause of mental retardation. Widespread testing is warranted by the relatively high frequency of the disorder, the benefits of early ...

Authors: Mahmoud S Khaniani, Paul Kalitsis, Trent Burgess and Howard R Slater

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FIS...

Authors: Laura Rodríguez, Tomas Liehr, María Luisa Martínez-Fernández, Ana Lara, Antonio Torres and María Luisa Martínez-Frías

Direct fluorescent labelling of clones by DOP PCR

Array Comparative Genomic Hybridisation (array CGH) is a powerful technique for the analysis of constitutional chromosomal anomalies. Chromosomal duplications or deletions detected by array CGH need subsequent...

Authors: Liesbeth Backx, Reinhilde Thoelen, Hilde Van Esch and Joris R Vermeesch

Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtel...

Authors: Joo Wook Ahn, Kathy Mann, Zoe Docherty and Caroline Mackie Ogilvie

A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics

Authors: Yuri B Yurov, Thomas Liehr, Lisa G Shaffer, Ivan Y Iourov and Svetlana G Vorsanova