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Molecular Cytogenetics

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https://www.readbyqxmd.com/read/28331547/application-of-high-resolution-genomic-profiling-in-the-differential-diagnosis-of-liposarcoma
#1
Magdalena Koczkowska, Beata Stefania Lipska-Ziętkiewicz, Mariola Iliszko, Janusz Ryś, Markku Miettinen, Jerzy Lasota, Wojciech Biernat, Agnieszka Harazin-Lechowska, Anna Kruczak, Janusz Limon
BACKGROUND: Rarity and heterogeneity of liposarcomas (LPS) make their diagnosis difficult even for sarcoma-experts pathologists. The molecular mechanism underlying the development and progression of liposarcomas (LPS) remains only partially known. In order to identify and compare the genomic profiles, we analyzed array-based comparative genomic hybridization (array-CGH) profiles of 66 liposarcomas, including well-differentiated (WDLPS), dedifferentiated (DDLPS) and myxoid (MLPS) subtypes...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28293297/incidence-of-the-22q11-2-deletion-in-a-large-cohort-of-miscarriage-samples
#2
Melissa K Maisenbacher, Katrina Merrion, Barbara Pettersen, Michael Young, Kiyoung Paik, Sushma Iyengar, Stephanie Kareht, Styrmir Sigurjonsson, Zachary P Demko, Kimberly A Martin
BACKGROUND: The 22q11.2 deletion syndrome is the most common microdeletion syndrome in livebirths, but data regarding its incidence in other populations is limited and also include ascertainment bias. This study was designed to determine the incidence of the 22q11.2 deletion in miscarriage samples sent for clinical molecular cytogenetic testing. RESULTS: Twenty-six thousand one hundred one fresh product of conception (POC) samples were sent to a CLIA- certified, CAP-accredited laboratory from April 2010--May 2016 for molecular cytogenetic miscarriage testing using a single-nucleotide polymorphism (SNP)-based microarray platform...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28293296/isolation-and-characterization-of-chromosomal-markers-in-poa-pratensis
#3
Yanyan Zhao, Feng Yu, Ruijuan Liu, Quanwen Dou
BACKGROUND: Poa pratensis L. is a turf grass and forage crop used worldwide. Being a facultative apomictic species, P. pratensis has a highly variable chromosome number. Chromosomal markers constitute a powerful tool for chromosome identification and for various aspects of genomic research. However, currently, no chromosomal markers are available for P. pratensis. RESULTS: Four novel chromosome markers were isolated from a screen of Cot-1 DNA libraries, combined with fluorescence in situ hybridization (FISH) in Poa pratensis...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28261327/multiple-myo18a-pdgfrb-fusion-transcripts-in-a-myeloproliferative-neoplasm-patient-with-t-5-17-q32-q11
#4
Guangying Sheng, Zhao Zeng, Jinlan Pan, Linbing Kou, Qinrong Wang, Hong Yao, Lijun Wen, Liang Ma, Depei Wu, Huiying Qiu, Suning Chen
BACKGROUND: Myeloproliferative neoplasms (MPNs), typically defined by myeloid proliferation and eosinophilia, and are only rarely caused by platelet-derived growth factor receptor beta (PDGFRB) gene rearrangements. CASE PRESENTATION: Here, we report a unique case of MPN that is negative for eosinophilia and characterized by a novel PDGFRB rearrangement. After cytogenetic analysis revealed a karyotype of t(5;17) (q32;q11), we used fluorescence in situ hybridization to specifically identify the PDGFRB gene at 5q31-q33 as the gene that had been translocated...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28239418/-classical-cytogenetics-is-not-equal-to-banding-cytogenetics
#5
Thomas Liehr
BACKGROUND: Human cytogenetics is a field suffering from the argumentation that it 'is nowadays really outdated and to be replaced by molecular high throughput approaches'. Thus, it is to be expected that non-cytogeneticists do mistakes in nomenclature of cytogenetics, which is exposed to repeated reforms, like e.g. recently the now hardly manageable and readable nomenclature for array-comparative genomic hybridization. RESULTS: An unexpected nomenclature problem becomes more and more obvious in human cytogenetics - it seems to become difficult to understand how and when to use the designations "classical cytogenetics" or "banding cytogenetics"...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28184250/meiotic-outcome-in-two-carriers-of-y-autosome-reciprocal-translocations-selective-elimination-of-certain-segregants
#6
Harita Ghevaria, Roy Naja, Sioban SenGupta, Paul Serhal, Joy Delhanty
BACKGROUND: Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic diagnosis (PGD) enabling determination of the segregation types that were compatible with fertilization and preimplantation embryo development. Both PGD and follow up analysis were carried out via fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH) allowing the meiotic segregation types to be determined in a total of 27 embryos...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28174603/mlpa-analysis-in-a-cohort-of-patients-with-autism
#7
Sara Peixoto, Joana B Melo, José Ferrão, Luís M Pires, Nuno Lavoura, Marta Pinto, Guiomar Oliveira, Isabel M Carreira
BACKGROUND: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex ligation dependent probe amplification (MS-MLPA) test in autistic children refered by the neurodevelopmental center and autism unit of a Paediatric Hospital...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28031746/a-high-complex-karyotype-involving-eleven-chromosomes-including-three-novel-chromosomal-aberrations-and-monoallelic-loss-of-tp53-in-case-of-follicular-lymphoma-transformed-into-b-cell-lymphoblastic-leukemia
#8
Abdulsamad Wafa, Faten Moassass, Thomas Liehr, Samarth Bhatt, Abdulmunim Aljapawe, Walid Al Achkar
BACKGROUND: Follicular lymphoma (FL) is one of the most common B-cell non-Hodgkin's lymphoma (NHL). A subset of FL cases transform into more aggressive malignancies, most often to diffuse large B-cell lymphoma (DLBCL); in addition, lymphoblastic lymphoma and acute lymphoblastic leukemia (ALL) have also been rarely reported. The most common cytogenetic abnormalities associated with FL are translocation t(14;18)(q32;q21) with BCL2 rearrangements, present in 80-90% of all FL. However, that translocation alone is insufficient to cause FL and additional genomic events specifically leading to this kind of disease are still to be determined...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28018487/inherent-variability-of-cancer-specific-aneuploidy%C3%A2-generates-metastases
#9
Mathew Bloomfield, Peter Duesberg
BACKGROUND: The genetic basis of metastasis is still unclear because metastases carry individual karyotypes and phenotypes, rather than consistent mutations, and are rare compared to conventional mutation. There is however correlative evidence that metastasis depends on cancer-specific aneuploidy, and that metastases are karyotypically related to parental cancers. Accordingly we propose that metastasis is a speciation event. This theory holds that cancer-specific aneuploidy varies the clonal karyotypes of cancers automatically by unbalancing thousands of genes, and that rare variants form new autonomous subspecies with metastatic or other non-parental phenotypes like drug-resistance - similar to conventional subspeciation...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27980677/a-18p11-23-p11-31-microduplication-in-a-boy-with-psychomotor-delay-cerebellar-vermis-hypoplasia-chorioretinal-coloboma-deafness-and-gh-deficiency
#10
Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza, Mauro Bozzola
BACKGROUND: Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy. CASE PRESENTATION: In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar vermis, chorioretinal coloboma, deafness and growth hormone deficiency (GHD), an interstitial microduplication at 18p11.31-p11.23 was identified by array-CGH. This maternally inherited microduplication, encompasses three genes, namely ARHGAP28, LINC00668 and LAMA1 (a gene involved in cerebellum and retinal development)...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27980676/autism-and-intellectual-disability-in-a-patient-with-two-microdeletions-in-6q16-a-contiguous-gene-deletion-syndrome
#11
Daniela Strunk, Peter Weber, Benno Röthlisberger, Isabel Filges
BACKGROUND: Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism. CASE PRESENTATION: We describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) analysis showed the unusual finding of two de novo microdeletions in cis position on chromosome 6q16.1q16.2 and 6q16.3. The two deletions span 10 genes, including FBXL4, POU3F2, PRDM13, CCNC, COQ3 and GRIK2...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27924152/molecular-characterization-of-a-rare-analphoid-supernumerary-marker-chromosome-derived-from-7q35%C3%A2-%C3%A2-%C3%A2-qter-a-case-report
#12
Bárbara Marques, Cristina Ferreira, Filomena Brito, Sónia Pedro, Cristina Alves, Teresa Lourenço, Marta Amorim, Hildeberto Correia
BACKGROUND: Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far. CASE PRESENTATION: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27924151/effect-of-sp600125-on-the-mitotic-spindle-in-hela-cells-leading-to-mitotic-arrest-endoreduplication-and-apoptosis
#13
Donia Mili, Kaouthar Abid, Imed Rjiba, Abderraouf Kenani
BACKGROUND: The JNK inhibitor SP600125 strongly inhibits cell proliferation in many human cancer cells by blocking mitosis progression and inducing cell death. Despite, all this study, the mechanism by which SP600125 inhibits mitosis-related effects in human cervical cells (HeLa cells) remains unclear. In this study, we investigated the effects of SP600125 on the cell viability, cell cycle, and on the spindle assembly during mitosis in HeLa cells. METHODS: To explore this approach, we used a viability test, an immunofluorescence microscopy to detect Histone phosphorylation and mitotic spindle aberrations...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895714/early-detection-and-personalized-treatment-in-oral-cancer-the-impact-of-omics-approaches
#14
REVIEW
Ilda Patrícia Ribeiro, Leonor Barroso, Francisco Marques, Joana Barbosa Melo, Isabel Marques Carreira
BACKGROUND: Oral cancer is one of the most common malignant lesions of the head and neck. This cancer is an aggressive and lethal disease with no significant improvements in the overall survival in the last decades. Moreover, the incidence of oral HPV-positive tumors is rising, especially in young people. This oral neoplasm develops through numerous molecular imbalances that affect key genes and signaling pathways; however, the molecular mechanisms involved in the pathogenesis and progression of oral tumors are still to be fully determined...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895713/coexistence-of-iamp21-and-etv6-runx1-fusion-in-an-adolescent-with-b-cell-acute-lymphoblastic-leukemia-literature-review-of-six-additional-cases
#15
Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P Patel, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases associated with a poor prognosis. iAMP21 accounts for 2% of pediatric B-ALL and occurs predominantly in older children or adolescents. ETV6-RUNX1 fusion, resulting from t(12;21)(p13;q22), is associated with an excellent outcome in younger children with B-ALL. Coexistence of iAMP21 with ETV6-RUNX1 fusion is extremely rare with limited clinical information available...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895712/philadelphia-chromosome-duplication-as-a-ring-shaped-chromosome
#16
Cesar Borjas-Gutierrez, Juan Ramon Gonzalez-Garcia
The gain of a second copy of the Philadelphia chromosome is one of the main secondary chromosomal changes related to the clonal evolution of cells with t(9;22) in chronic myelogenous leukemia. This gain causes the acquisition of another copy of the BCR/ABL1 fusion gene. Isochromosomes of the der(22) chromosome or double minute chromosomes are well known to lead an increased copy number of BCR/ABL1 gene. There is no antecedent of Philadelphia chromosome duplication as a ring chromosome. A recent published report contains evidence that strongly suggests that the Philadelphia chromosome was duplicated as a ring chromosome, observation that was overlooked by the authors...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895711/erratum-to-subtelomeric-multiplex-ligation-dependent-probe-amplification-as-a-supplement-for-rapid-prenatal-detection-of-fetal-chromosomal-aberrations
#17
Xiangnan Chen, Huanzheng Li, Yijian Mao, Xueqin Xu, Jiaojiao Lv, Lili Zhou, Xiaoling Lin, Shaohua Tang
[This corrects the article DOI: 10.1186/s13039-014-0096-1.].
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27891178/enrichment-of-small-pathogenic-deletions-at-chromosome-9p24-3-and-9q34-3-involving-dock8-kank1-ehmt1-genes-identified-by-using-high-resolution-oligonucleotide-single-nucleotide-polymorphism-array-analysis
#18
Jia-Chi Wang, Loretta W Mahon, Leslie P Ross, Arturo Anguiano, Renius Owen, Fatih Z Boyar
BACKGROUND: High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions. RESULTS: A review of 531 cases with reportable copy number changes on chromosome 9 revealed142 pathogenic copy number variants (CNVs): 104 losses, 31 gains, 7 complex chromosomal rearrangements...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27822311/mir137-is-the-key-gene-mediator-of-the-syndromic-obesity-phenotype-of-patients-with-1p21-3-microdeletions
#19
Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, Susanna Esposito, Donatella Milani
BACKGROUND: Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap comprises two genes: DPYD and MIR137. CASE PRESENTATION: We describe a 10-year-old boy with syndromic obesity who carries a novel 1p21.3 deletion overlapping the critical region with the MIR137 gene only. CONCLUSIONS: This study suggests that MIR137 is the mediator of the obesity phenotype of patients carrying 1p21...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27766118/interstitial-de-novo-18q22-3q23-deletion-clinical-neuroradiological-and-molecular-characterization-of-a-new-case-and-review-of-the-literature
#20
Elisa Tassano, Mariasavina Severino, Silvia Rosina, Riccardo Papa, Domenico Tortora, Giorgio Gimelli, Cristina Cuoco, Paolo Picco
BACKGROUND: Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype. CASE PRESENTATION: We report on a 16-month-old male infant affected by fever attacks apparently unrelated with any infectious or inflammatory symptoms, growth retardation, bilateral vertical talus, congenital aural atresia, dysmorphisms, mild psychomotor delay, and peculiar neuroradiological features. Array-CGH analysis revealed one of the smallest 18q22...
2016: Molecular Cytogenetics
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