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Molecular Cytogenetics

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https://www.readbyqxmd.com/read/28533818/a-novel-bcr-abl1-fusion-gene-with-genetic-heterogeneity-indicates-a-good-prognosis-in-a-chronic-myeloid-leukemia-case
#1
Fen Zhou, Runming Jin, Yu Hu, Heng Mei
BACKGROUND: Chronic myelogenous leukemia (CML) is a pluripotent hematopoietic stem cell disorder caused by the fusion of the BCR and ABL1 genes. Quantitative RT-PCR (qRT-PCR) is a routinely performed screening technique to identify BCR-ABL1 fusion genes, but a limitation of this method is its inability to recognize novel fusions that have not been previously characterized. Next-generation sequencing (NGS) is an effective and sensitive detection method for the determination of novel BCR-ABL1 fusion genes as well as previously characterized ones...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28533817/mosaicism-for-structural-non-centromeric-autosomal-rearrangements-in-disease-defined-carriers-sex-differences-in-the-rearrangements-profile-and-maternal-age-distributions
#2
REVIEW
Natalia V Kovaleva, Philip D Cotter
BACKGROUND: Mosaicism for an autosomal structural rearrangement (Rea) associated with clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of basic epidemiological characterization of this kind of mosaicism, such as population rate, cytogenetic profile of Reas involved, maternal age distribution, and sex (male to female) ratio among Rea carriers. The objectives of the present study were: (i) determination of the Rea profile in clinically affected individuals, (ii) comparative analysis of the cytogenetic profile and involvement of single chromosomes to rearrangements in affected and previously reported asymptomatic carriers, (iii) analysis of the male/female ratio in carriers of various types of Rea, and, (iv) examination of parental ages distributions according to carriers' sex...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28491138/clinicohematological-and-cytogenetic-profile-of-myelodysplastic-syndromes-in-pakistan-compare-and-contrast
#3
Nida Anwar, Aisha Arshad, Muhammad Nadeem, Sana Khurram, Naveena Fatima, Sumaira Sharif, Saira Shan, Tahir Shamsi
BACKGROUND: Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS. RESULTS: A retrospective cross sectional study was done at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan from 2010 to 2016...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28484518/importance-of-biomarkers-in-glioblastomas-patients-receiving-local-bcnu-wafer-chemotherapy
#4
Steffi Urbschat, Christoph Sippl, Jana Engelhardt, Kai Kammers, Joachim Oertel, Ralf Ketter
BACKGROUND: To assess the influence of molecular markers with potential prognostic value to groups of patients with newly diagnosed glioblastoma patients were examined: group A with 36 patients (surgical resection plus standard combined chemoradiotherapy) and group B with 36 patients (surgical resection, standard combined chemoradiotherapy plus carmustine wafer implantation). Our aim was to determine chromosomal alterations, methylation status of MGMT, p15, and p16 (CDKN2A) in order to analyse the influence on patient survival time as well as radio- and chemotherapy responses...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28465723/a-case-with-concurrent-duplication-triplication-and-uniparental-isodisomy-at-1q42-12-qter-supporting-microhomology-mediated-break-induced-replication-model-for-replicative-rearrangements
#5
Tomohiro Kohmoto, Nana Okamoto, Takuya Naruto, Chie Murata, Yuya Ouchi, Naoko Fujita, Hidehito Inagaki, Shigeko Satomura, Nobuhiko Okamoto, Masako Saito, Kiyoshi Masuda, Hiroki Kurahashi, Issei Imoto
BACKGROUND: Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR) has been recently proposed as a possible mechanism giving rise to interstitial copy number gains and distal isoUPD, although only a few cases providing supportive evidence in human congenital diseases with MCA have been documented...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28450889/identification-of-mosaic-and-segmental-aneuploidies-by-next-generation-sequencing-in-preimplantation-genetic-screening-can-improve-clinical-outcomes-compared-to-array-comparative-genomic-hybridization
#6
Hsing-Hua Lai, Tzu-Hsuan Chuang, Lin-Kin Wong, Meng-Ju Lee, Chia-Lin Hsieh, Huai-Lin Wang, Shee-Uan Chen
BACKGROUND: Chromosomal mosaicism is observed as the presence of both euploid and aneuploid cells in a particular blastocyst. Recent studies have reported that the implantation rate of mosaic embryo transfer is remarkably lower than the euploid embryos. The superior capability of next-generation sequencing (NGS) to detect chromosomal mosaicism in preimplantation genetic screening (PGS) remains controversial, and several data displayed similar implantation and pregnancy rates using NGS or array comparative genomic hybridization (aCGH)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28413448/genetic-and-epigenetic-characterization-of-the-tumors-in-a-patient-with-a-tongue-primary-tumor-a-recurrence-and-a-pharyngoesophageal-second-primary-tumor
#7
Ilda P Ribeiro, Francisco Marques, Leonor Barroso, Jorge Miguéis, Francisco Caramelo, André Santos, Maria J Julião, Joana B Melo, Isabel M Carreira
BACKGROUND: The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by the treatment of the first tumor, and the overall survival is lower when compared with patients with a single or first tumor. Identifying biomarkers that predict the risk of relapse and the response to treatment is an emerging clinical issue. CASE PRESENTATION: A Caucasian 49-years-old man was treated with chemotherapy followed by chemoradiotherapy for a primary left side tongue tumor, achieving a complete response...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28396697/efficient-and-cost-effective-genetic-analysis-of-products-of-conception-and-fetal-tissues-using-a-qf-pcr-array-cgh-strategy-five-years-of-data
#8
Celia Donaghue, Nada Davies, Joo Wook Ahn, Helen Thomas, Caroline Mackie Ogilvie, Kathy Mann
BACKGROUND: Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007. To improve diagnostic yield and efficiency we have now updated our testing strategy to a more comprehensive QF-PCR assay followed by array CGH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28396696/is-dna-methylation-the-new-guardian-of-the-genome
#9
REVIEW
Robert M Hoffman
BACKGROUND: It has been known for more than 100 years that aneuploidy is an essence of cancer. The question is what keeps the genome stable, thereby preventing aneuploidy. For the past 25 years, it has been proposed that p53 is the "guardian of the genome." However, it has been shown that inactivation of p53 does not cause aneuploidy. Another essence of cancer is global DNA hypomethylation, which causes destabilization of the genome and subsequent aneupoloidy. Yet, another essence of cancer is excessive use of methionine, resulting in methionine dependence...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344653/characterization-of-a-de-novo-ssmc-17-detected-in-a-girl-with-developmental-delay-and-dysmorphic-features
#10
Lana Stavber, Sara Bertok, Jernej Kovač, Marija Volk, Luca Lovrečić, Tadej Battelino, Tinka Hovnik
BACKGROUND: The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17. CASE PRESENTATION: The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#11
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344651/identification-of-a-novel-dmd-duplication-identified-by-a-combination-of-mlpa-and-targeted-exome-sequencing
#12
Beibei Wu, Liying Wang, Ting Dong, Jiahui Jin, Yili Lu, Huiping Wu, Yue Luo, Xiaoou Shan
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the DMD gene. The aim of this study was to identify a de novo mutation of the DMD gene in the family of a 9-month-old Chinese male patient, as well as to describe the phenotypic characteristics of this patient. RESULTS: The patient was suspected to suffer from DMD according to physical examination, biochemical analyses, and electromyogram. We identified a duplication of exons 4-42 in DMD gene with targeted exome sequencing and multiplex ligation-dependent probe amplification (MLPA)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28331547/application-of-high-resolution-genomic-profiling-in-the-differential-diagnosis-of-liposarcoma
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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