Articles

Comparison of mitotic cell death by chromosome fragmentation to premature chromosome condensation

Mitotic cell death is an important form of cell death, particularly in cancer. Chromosome fragmentation is a major form of mitotic cell death which is identifiable during common cytogenetic analysis by its uni...

Authors: Joshua B Stevens, Batoul Y Abdallah, Sarah M Regan, Guo Liu, Steven W Bremer, Christine J Ye and Henry H Heng

MLPA for confirmation of array CGH results and determination of inheritance

Array CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of p...

Authors: Alison Hills, Joo Wook Ahn, Celia Donaghue, Helen Thomas, Kathy Mann and Caroline Mackie Ogilvie

Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl

Partial trisomy of the short arm of chromosome 9 is among the most common autosomal structural chromosomal anomalies leading to chromosomal imbalance in human. Clinical characteristics are craniofacial dysmorp...

Authors: Walid Al Achkar, Abdulsamad Wafa, Faten Moassass and Thomas Liehr

Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology

Comet assay and micronucleus (MN) test are widely applied in genotoxicity testing and biomonitoring. While comet assay permits to measure direct DNA-strand breaking capacity of a tested agent MN test allows es...

Authors: Galina G Hovhannisyan

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

For the rapid detection of common aneuploidies either PCR or Fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells are widely used. There are different commercial suppliers providing FIS...

Authors: Christel Eckmann-Scholz, Stefan Gesk, Inga Nagel, Andrea Haake, Susanne Bens, Simone Heidemann, Monika Kautza, Christian Timke, Reiner Siebert and Almuth Caliebe

Genomic amplification of BCR/ABL1 and a region downstream of ABL1 in chronic myeloid leukaemia: a FISH mapping study of CML patients and cell lines

Chronic myeloid leukaemia (CML) is characterized by the expression of the BCR/ABL1 fusion gene, a constitutively activated tyrosine kinase that commonly results from the formation of the Philadelphia (Ph) chromos...

Authors: Anna Virgili and Elisabeth P Nacheva

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

Premature ovarian failure (POF) has repeatedly been associated to X-chromosome deletions. FMR1 gene premutation allele's carrier women have an increased risk for POF. We intent to determine the cause of POF in a ...

Authors: Susana I Ferreira, Eunice Matoso, Marta Pinto, Joana Almeida, Thomas Liehr, Joana B Melo and Isabel M Carreira

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genom...

Authors: Lars T van der Veken, Marianne MJ Dieleman, Hannie Douben, Judith C van de Brug, Raoul van de Graaf, A Jeannette M Hoogeboom, Pino J Poddighe and Annelies de Klein

Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report

The group of small blue round cell tumors encompasses a heterogeneous group of neoplasms characterized by primitive appearing round cells with few distinguishing histologic features.

Authors: Marina Pacheco, Douglas E Horsman, Malcolm M Hayes, Paul W Clarkson, Hassan Huwait and Torsten O Nielsen

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below t...

Authors: Nicholas J Neill, Beth S Torchia, Bassem A Bejjani, Lisa G Shaffer and Blake C Ballif

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (...

Authors: Dilek Aktas, Eda G Utine, Kristin Mrasek, Anja Weise, Ferdinand von Eggeling, Kalbiye Yalaz, Nicole Posorski, Nurten Akarsu, Mehmet Alikasifoglu, Thomas Liehr and Ergul Tuncbilek

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyot...

Authors: Joo Wook Ahn, Kathy Mann, Sally Walsh, Marwa Shehab, Sarah Hoang, Zoe Docherty, Shehla Mohammed and Caroline Mackie Ogilvie

Cytogenetic contribution to uniparental disomy (UPD)

Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connecti...

Authors: Thomas Liehr

Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue

Trisomy of chromosome 21 (T21; Down syndrome, DS) is the most common aneuploidy in live births. Though its etiology has been intensively studied for a half of century, there are surprisingly many problems awai...

Authors: Natalia V Kovaleva

A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3

The so-called Philadelphia (Ph) chromosome is present in almost all cases with chronic myeloid leukemia (CML). Around 5-10% of these patients show complex translocations involving other chromosomes in addition...

Authors: Walid Al Achkar, Abdulsamad Wafa, Hasmik Mkrtchyan, Faten Moassass and Thomas Liehr

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransfera...

Authors: Anna Polityko, Olga Khurs, Natalia Rumyantseva, Irina Naumchik, Nadezda Kosyakova, Holger Tönnies, Karl Sperling, Heidemarie Neitzel, Anja Weise and Thomas Liehr

On the paternal origin of trisomy 21 Down syndrome

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

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

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

The 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication...

Authors: John CK Barber, Dave Bunyan, Merryl Curtis, Denise Robinson, Susanne Morlot, Anette Dermitzel, Thomas Liehr, Claudia Alves, Joana Trindade, Ana I Paramos, Clare Cooper, Kevin Ocraft, Emma-Jane Taylor and Viv K Maloney

Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis

Two related family members, a female and a male balanced carrier of an intrachromosomal insertion on chromosome 7 were referred to our centre for preimplantation genetic diagnosis. This presented a rare opport...

Authors: Leoni Xanthopoulou, Anna Mantzouratou, Anastasia Mania, Suzanne Cawood, Alpesh Doshi, Domenico M Ranieri and Joy DA Delhanty

Human interphase chromosomes: a review of available molecular cytogenetic technologies

Human karyotype is usually studied by classical cytogenetic (banding) techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the c...

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

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 dupl...

Authors: David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman and N Carolyn Schanen

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been pr...

Authors: Emmanouil Manolakos, Sandro Orru, Rosita Neroutsou, Konstantinos Kefalas, Eirini Louizou, Ioannis Papoulidis, Loretta Thomaidis, Panagiotis Peitsidis, Sotirios Sotiriou, George Kitsos, Panagiota Tsoplou, Michael B Petersen and Aikaterini Metaxotou

Chromosome r(10)(p15.3q26.12) in a newborn child: case report

Ring chromosome 10 is a rare cytogenetic finding. Of the less than 10 reported cases we have found in the literature, none was characterized using high-resolution microarray analysis. Ring chromosomes are freq...

Authors: Cecilia Gunnarsson, Barbara Graffmann and Jon Jonasson

Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report

Infertility is a natural mechanism of selection intended to prevent the delivery of a child with malformations or mental retardation. Male infertility is closely related to chromosomal abnormalities. This stud...

Authors: Maria S Juchniuk de Vozzi, Silvio A Santos, Ciro S Pereira, Juliana F Cuzzi, Lucimar AF Laureano, José G Franco Jr and Lucia Martelli

GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny

Genomic instability (GIN) and chromosome instability (CIN) are two closely related ways to produce a variety of pathogenic conditions, i.e. cancer, neurodegeneration, chromosomal and genomic diseases. The GIN ...

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

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar.

Authors: Frenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, Anja Weise, Jayesh Sheth, Manisha Desai, Joris Andrieux, Joris Vermeesch, Ahmed B Hamid, Monika Ziegler and Thomas Liehr

Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report

The well-known typical fusion gene BCR/ABL can be observed in connection with a complex translocation event in only 2-10% of cases with chronic myeloid leukemia (CML). As currently most CML cases are treated w...

Authors: Walid Al Achkar, Abdulsamad Wafa, Hasmik Mkrtchyan, Faten Moassass and Thomas Liehr

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a pa...

Authors: Lucia M Moraes, Leila CA Cardoso, Vera LS Moura, Miguel AM Moreira, Albert N Menezes, Juan C Llerena Jr and Héctor N Seuánez

Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases...

Authors: Sara Lissoni, Simona Baronchelli, Nicoletta Villa, Valeria Lucchini, Enrico Betri, Pietro Cavalli and Leda Dalprà

Candidate metastasis suppressor genes uncovered by array comparative genomic hybridization in a mouse allograft model of prostate cancer

The purpose of this study was to identify candidate metastasis suppressor genes from a mouse allograft model of prostate cancer (NE-10). This allograft model originally developed metastases by twelve weeks aft...

Authors: Yajun Yi, Srinivas Nandana, Thomas Case, Colleen Nelson, Tatjana Radmilovic, Robert J Matusik and Karen D Tsuchiya

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Repor...

Authors: Ryan N Traylor, Zheng Fan, Beth Hudson, Jill A Rosenfeld, Lisa G Shaffer, Beth S Torchia and Blake C Ballif

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy

Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. As...

Authors: Isabel M Carreira, Joana B Melo, Carlos Rodrigues, Liesbeth Backx, Joris Vermeesch, Anja Weise, Nadezda Kosyakova, Guiomar Oliveira and Eunice Matoso

Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

Complex chromosomal rearrangements (CCR) are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. H...

Authors: Paula JP de Vree, Marleen EH Simon, Marieke F van Dooren, Gerda HT Stoevelaar, José TW Hilkmann, Michel A Rongen, Gido CM Huijbregts, Annemieke JMH Verkerk and Pino J Poddighe

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotyp...

Authors: Dilek Aktas, Anja Weise, Eda Utine, Dursun Alehan, Kristin Mrasek, Ferdinand von Eggeling, Heike Thieme, Ergul Tuncbilek and Thomas Liehr

New sequence-based data on the relative DNA contents of chromosomes in the normal male and female human diploid genomes for radiation molecular cytogenetics

The objective of this work is to obtain the correct relative DNA contents of chromosomes in the normal male and female human diploid genomes for the use at FISH analysis of radiation-induced chromosome aberrat...

Authors: Mikhail V Repin, Pavel I Golubev and Ludmila A Repina

Automated detection of residual cells after sex-mismatched stem-cell transplantation – evidence for presence of disease-marker negative residual cells

A new chimerism analysis based on automated interphase fluorescence in situ hybridization (FISH) evaluation was established to detect residual cells after allogene sex-mismatched bone marrow or blood stem-cell...

Authors: Jörn Erlecke, Isabell Hartmann, Martin Hoffmann, Torsten Kroll, Heike Starke, Anita Heller, Alexander Gloria, Herbert G Sayer, Tilman Johannes, Uwe Claussen, Thomas Liehr and Ivan F Loncarevic

Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA

The temporal order of allelic replication is interrelated to the epigenomic profile. A significant epigenetic marker is the asynchronous replication of monoallelically-expressed genes versus the synchronous re...

Authors: Josepha Yeshaya, Itay Amir, Ayelet Rimon, Jane Freedman, Mordechai Shohat and Lydia Avivi

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