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7p deletion

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https://www.readbyqxmd.com/read/27590389/prenatal-diagnosis-of-partial-monosomy-5p-5p15-1%C3%A2-pter-and-partial-trisomy-7p-7p15-2%C3%A2-pter-associated-with-cystic-hygroma-abnormal-skull-development-and-ventriculomegaly
#1
Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Kevin Ko, Yen-Ni Chen, Shin-Wen Chen, Meng-Shan Lee, Wayseen Wang
OBJECTIVE: Prenatal diagnosis of concomitant chromosome 5p deletion syndrome and chromosome 7p duplication syndrome in a fetus with abnormal prenatal ultrasound is presented. CASE REPORT: A 34-year-old woman was referred for amniocentesis at 22 weeks of gestation because of an irregular-shaped skull, bilateral ventriculomegaly, and nuchal cystic hygroma. Amniocentesis revealed a derivative chromosome 5 with a distal 5p deletion and an addendum of an extra unknown chromosomal segment at the breakpoint of 5p...
August 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27459347/transferring-desirable-genes-from-agropyron-cristatum-7p-chromosome-into-common-wheat
#2
Mingjie Lu, Yuqing Lu, Huanhuan Li, Cuili Pan, Yong Guo, Jinpeng Zhang, Xinming Yang, Xiuquan Li, Weihua Liu, Lihui Li
Wheat-Agropyron cristatum 7P disomic addition line Ⅱ-5-1, derived from the distant hybridization between A. cristatum (2n = 4x = 28, PPPP) and the common wheat cv. Fukuhokomugi (Fukuho), displays numerous desirable agronomic traits, including enhanced thousand-grain weight, smaller flag leaf, and enhanced tolerance to drought. In order to transfer these traits into common wheat, Ⅱ-5-1 was induced by 60Co-γ ray, leading to the creation of 18 translocation lines and three deletion lines. Genomic in situ hybridization (GISH) and fluorescence in situ hybridization (FISH) indicated that multiple wheat chromosomes were involved in the translocation events, including chromosome 2A, 3A, 5A, 7A, 3B, 5B, 7B, 3D and 7D...
2016: PloS One
https://www.readbyqxmd.com/read/27207013/whole-genome-profiling-helps-to-classify-phyllodes-tumours-of-the-breast
#3
Marick Laé, Philippe La Rosa, Jonas Mandel, Fabien Reyal, Philippe Hupé, Philippe Terrier, Jérôme Couturier
AIMS: The aim of this study was to analyse a series of borderline and malignant phyllodes tumours (PTs) of the breast by whole-genome profiling to identify genomic markers that could help to recognise potentially malignant tumours within borderline tumours. METHODS: We evaluated the genetic imbalances of a series of 53 PTs (30 borderline, 23 malignant) using the Human CNV370 BeadChip microarray (Illumina), containing 370 000 SNP markers and correlate this alterations with clinicopathological features...
May 20, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27050151/genetically-defined-novel-oral-squamous-cell-carcinoma-cell-lines-for-the-development-of-molecular-therapies
#4
Muhammad Zaki Hidayatullah Fadlullah, Ivy Kim-Ni Chiang, Kalen R Dionne, Pei San Yee, Chai Phei Gan, Kin Kit Sam, Kai Hung Tiong, Adrian Kwok Wen Ng, Daniel Martin, Kue Peng Lim, Thomas George Kallarakkal, Wan Mahadzir Wan Mustafa, Shin Hin Lau, Mannil Thomas Abraham, Rosnah Binti Zain, Zainal Ariff Abdul Rahman, Alfredo Molinolo, Vyomesh Patel, J Silvio Gutkind, Aik Choon Tan, Sok Ching Cheong
Emerging biological and translational insights from large sequencing efforts underscore the need for genetically-relevant cell lines to study the relationships between genomic alterations of tumors, and therapeutic dependencies. Here, we report a detailed characterization of a novel panel of clinically annotated oral squamous cell carcinoma (OSCC) cell lines, derived from patients with diverse ethnicity and risk habits. Molecular analysis by RNAseq and copy number alterations (CNA) identified that the cell lines harbour CNA that have been previously reported in OSCC, for example focal amplications in 3q, 7p, 8q, 11q, 20q and deletions in 3p, 5q, 8p, 18q...
May 10, 2016: Oncotarget
https://www.readbyqxmd.com/read/26913079/genomic-imbalances-pinpoint-potential-oncogenes-and-tumor-suppressors-in-wilms-tumors
#5
A C V Krepischi, M Maschietto, E N Ferreira, A G Silva, S S Costa, I W da Cunha, B D F Barros, P E Grundy, C Rosenberg, D M Carraro
BACKGROUND: Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work was to investigate CNAs in order to disclose new candidate genes for Wilms tumorigenesis. RESULTS: Array-CGH of 50 primary WTs without pre-chemotherapy revealed a few recurrent CNAs not previously reported, such as 7q and 20q gains, and 7p loss. Genomic amplifications were exclusively detected in 3 cases of WTs that later relapsed, which also exhibited an increased frequency of gains affecting a 16...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/26863533/potentiation-of-%C3%AE-f508-and-g551d-cftr-mediated-cl-current-by-novel-hydroxypyrazolines
#6
Jinhong Park, Poonam Khloya, Yohan Seo, Satish Kumar, Ho K Lee, Dong-Kyu Jeon, Sungwoo Jo, Pawan K Sharma, Wan Namkung
The most common mutation of CFTR, affecting approximately 90% of CF patients, is a deletion of phenylalanine at position 508 (F508del, ΔF508). Misfolding of ΔF508-CFTR impairs both its trafficking to the plasma membrane and its chloride channel activity. To identify small molecules that can restore channel activity of ΔF508-CFTR, we synthesized and evaluated eighteen novel hydroxypyrazoline analogues as CFTR potentiators. To elucidate potentiation activities of hydroxypyrazolines for ΔF508-CFTR, CFTR activity was measured using a halide-sensitive YFP assay, Ussing chamber assay and patch-clamp technique...
2016: PloS One
https://www.readbyqxmd.com/read/25985995/the-clinical-utility-of-next-generation-sequencing-for-identifying-chromosome-disease-syndromes-in-human-embryos
#7
Junmei Fan, Li Wang, Hui Wang, Minyue Ma, Shufang Wang, Zhongyu Liu, Genming Xu, Jianguang Zhang, David S Cram, Yuanqing Yao
Next-generation sequencing is emerging as a reliable and accurate technology for pre-implantation genetic diagnosis (PGD) of aneuploidies and translocations. The aim of this study was to extend the clinical utility of copy number variation sequencing (CNV-Seq) to the detection of small pathogenic copy number variations (CNVs) associated with chromosome disease syndromes. In preliminary validation studies, CNV-Seq was highly sensitive and specific for detecting small CNV in whole-genome amplification products from three replicates of one and five cell samples, with a resolution in the order of 1-2 Mb...
July 2015: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/25925998/a-novel-molecular-cytogenetic-finding-of-leiomyomatosis-peritonealis-disseminata
#8
Yan-Ting Wu, Yan Wu, Song-Chang Chen, Feng Zhou, Chun-Bo Yang, Zhen-Wei Xie, Chen-Ming Xu, Hang-Mei Jin
BACKGROUND: Leiomyomatosis peritonealis disseminata (LPD) is a rare disease characterised by the subperitoneal proliferation of smooth muscle cells that form benign nodules. A few studies have aimed to reveal the pathogenesis of LPD without reaching a clear explanation. METHODS: Karyotype analysis and array-comparative genomic hybridization (aCGH) of a human LPD case were performed to evaluate the role of chromosomal abnormalities in LPD pathogenesis. RESULTS: The LPD nodules showed a 45, XX, del(7p), t(11; 17) (q23;q25),-22 de novo karyotype, and the aCGH analysis confirmed these deletions at 7p22...
April 23, 2015: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/25893121/case-of-7p22-1-microduplication-detected-by-whole-genome-microarray-reveal-in-workup-of-child-diagnosed-with-autism
#9
Veronica Goitia, Marcial Oquendo, Robert Stratton
Introduction. More than 60 cases of 7p22 duplications and deletions have been reported with over 16 of them occurring without concomitant chromosomal abnormalities. Patient and Methods. We report a 29-month-old male diagnosed with autism. Whole genome chromosome SNP microarray (REVEAL) demonstrated a 1.3 Mb interstitial duplication of 7p22.1 ->p22.1 arr 7p22.1 (5,436,367-6,762,394), the second smallest interstitial 7p duplication reported to date. This interval included 14 OMIM annotated genes (FBXL18, ACTB, FSCN1, RNF216, OCM, EIF2AK1, AIMP2, PMS2, CYTH3, RAC1, DAGLB, KDELR2, GRID2IP, and ZNF12)...
2015: Case Reports in Genetics
https://www.readbyqxmd.com/read/25879652/patterns-of-chromosomal-copy-number-alterations-in-intrahepatic-cholangiocarcinoma
#10
Cyril Dalmasso, Wassila Carpentier, Catherine Guettier, Sophie Camilleri-Broët, Wyllians Vendramini Borelli, Cedália Rosane Campos Dos Santos, Denis Castaing, Jean-Charles Duclos-Vallée, Philippe Broët
BACKGROUND: Intrahepatic cholangiocarcinomas (ICC) are relatively rare malignant tumors associated with a poor prognosis. Recent studies using genome-wide sequencing technologies have mainly focused on identifying new driver mutations. There is nevertheless a need to investigate the spectrum of copy number aberrations in order to identify potential target genes in the altered chromosomal regions. The aim of this study was to characterize the patterns of chromosomal copy-number alterations (CNAs) in ICC...
2015: BMC Cancer
https://www.readbyqxmd.com/read/25875127/tensor-gsvd-of-patient-and-platform-matched-tumor-and-normal-dna-copy-number-profiles-uncovers-chromosome-arm-wide-patterns-of-tumor-exclusive-platform-consistent-alterations-encoding-for-cell-transformation-and-predicting-ovarian-cancer-survival
#11
Preethi Sankaranarayanan, Theodore E Schomay, Katherine A Aiello, Orly Alter
The number of large-scale high-dimensional datasets recording different aspects of a single disease is growing, accompanied by a need for frameworks that can create one coherent model from multiple tensors of matched columns, e.g., patients and platforms, but independent rows, e.g., probes. We define and prove the mathematical properties of a novel tensor generalized singular value decomposition (GSVD), which can simultaneously find the similarities and dissimilarities, i.e., patterns of varying relative significance, between any two such tensors...
2015: PloS One
https://www.readbyqxmd.com/read/25804019/a-patient-with-duplication-7-p15-3p22-3-and-deletion-7-p22-3pter-characterized-by-array-cgh
#12
B B Geckinli, H Aydin, A Karaman
We report a patient with neurodevelopmental delay, hypotonia, congenital cardiac anomaly and dysmorphic features such as macrocephaly, a large anterior fontanel, prominent forehead, short neck, downslanted and short palpebral fissures, hypertelorism, wide nasal bridge, straight, thin nose with asymmetric narrow inverted nostrils, micrognathia, low-set dysplastic ears. 7p15.3-p22.3 duplication and a 7p22.3-pter deletion were characterized by array-CGH analysed after karyotyping and FISH studies. The patient's distinctive features are consistent with the phenotypic features of 7p duplication...
2014: Genetic Counseling
https://www.readbyqxmd.com/read/25606054/genetic-changes-observed-in-a-case-of-adult-pilocytic-astrocytoma-revealed-by-array-cgh-analysis
#13
Nives Pećina-Šlaus, Kristina Gotovac, Anja Kafka, Davor Tomas, Fran Borovečki
BACKGROUND: A palette of copy number changes in a case of adult pilocytic astrocytoma analyzed by Array Comparative Genomic Hybridization (aCGH) is presented. Pilocytic astrocytomas are specific gliomas that are benign and biologically distinct and the molecular mechanisms responsible for their development remain unexplained. The aCGH was performed using SurePrint G3 Human CGH microarrays 4 × 180 K (Agilent Technologies). To ascertain whether some of the aberrations were of constitutive nature, we also analyzed the blood sample from the same patient...
2014: Molecular Cytogenetics
https://www.readbyqxmd.com/read/25217709/comparison-of-genomic-abnormality-in-malignant-mesothelioma-by-the-site-of-origin
#14
COMPARATIVE STUDY
Maiko Takeda, Takahiko Kasai, Yasunori Enomoto, Masato Takano, Kohei Morita, Tokiko Nakai, Norishige Iizuka, Hiroshi Maruyama, Chiho Ohbayashi
AIMS: Malignant mesothelioma (MM) results from the accumulation of a number of acquired genetic events at the onset. In MM, the most frequent changes are losses in 9p21, 1p36, 22q12 and 14q32, and gains in 5p, 7p and 8q24 by comparative genomic hybridisation analysis. We have examined various genomic losses and gains in MM and benign mesothelial proliferation by fluorescence in situ hybridisation (FISH) analysis. 9p21 deletion was reported to be less frequent in peritoneal than in pleural MMs...
December 2014: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/24646765/acute-myeloid-leukemia-with-t-7-21-p22-q22-and-5q-deletion-a-case-report-and-literature-review
#15
Jianling Ji, Eric Loo, Sheeja Pullarkat, Lynn Yang, Carlos A Tirado
The gene RUNX1 at chromosome 21q22 encodes the alpha subunit of Core binding factor (CBF), a heterodimeric transcription factor involved in the development of normal hematopoiesis. Translocations of RUNX1 are seen in several types of leukemia with at least 21 identified partner genes. The cryptic t(7;21)(p22;q22) rearrangement involving the USP42 gene appears to be a specific and recurrent cytogenetic abnormality. Eight of the 9 cases identified in the literature with this translocation were associated with acute myeloid leukemia (AML), with the remaining case showing refractory anemia with excess blasts, type 2...
2014: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/24321462/the-genetics-of-interdigitating-dendritic-cell-sarcoma-share-some-changes-with-langerhans-cell-histiocytosis-in-select-cases
#16
Dennis P O'Malley, Lawrence Zuckerberg, Lauren B Smith, Todd S Barry, Shelly Gunn, Wayne Tam, Attilio Orazi, Young S Kim, Lawrence M Weiss
Histiocytic disorders have been noted to have evidence of transdifferentiation; examples of cases with combinations of different lineages have been shown. In our index case, we identified interdigitating dendritic cell (IDC) differentiation in a case of Langerhans cell histiocytosis (LCH). Little is currently known about the genetics of IDC sarcoma (IDCS) because they are exceedingly rare. Using array comparative genomic hybridization (aCGH), we evaluated 4 cases of IDCS and compared them with our index case, as well as genetic abnormalities previously found in LCH...
February 2014: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/24162788/early-lesions-of-follicular-lymphoma-a-genetic-perspective
#17
Emilie Mamessier, Joo Y Song, Franziska C Eberle, Svetlana Pack, Charlotte Drevet, Bruno Chetaille, Ziedulla Abdullaev, José Adelaïde, Daniel Birnbaum, Max Chaffanet, Stefania Pittaluga, Sandrine Roulland, Andreas Chott, Elaine S Jaffe, Bertrand Nadel
The pathogenesis of follicular lymphoma is a multi-hit process progressing over many years through the accumulation of numerous genetic alterations. Besides the hallmark t(14;18), it is still unclear which other oncogenic hits contribute to the early steps of transformation and in which precursor stages these occur. To address this issue, we performed high-resolution comparative genomic hybridization microarrays on laser-capture micro-dissected cases of follicular lymphoma in situ (n=4), partial involvement by follicular lymphoma (n=4), and duodenal follicular lymphoma (n=4), assumed to represent, potentially, the earliest stages in the evolution of follicular lymphoma...
March 2014: Haematologica
https://www.readbyqxmd.com/read/24154570/mutations-in-the-pten-tumor-gene-and-risk-of-endometriosis-a-case-control-study
#18
Suresh Govatati, Vijaya Lakshmi Kodati, Mamata Deenadayal, Baidyanath Chakravarty, Sisinthy Shivaji, Manjula Bhanoori
STUDY QUESTION: Are mutations in the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene associated with endometriosis? SUMMARY ANSWER: Loss of heterozygosity (LOH) at the 10q23.3 locus, PTEN somatic mutations and changes in the levels and distribution of proteins in the PTEN-PI3K/Akt signal transduction pathway are associated with endometriosis. WHAT IS KNOWN ALREADY: Endometriosis has a strong genetic basis. Recent genome-wide association and linkage studies have reported a significant association of endometriosis with 7p15...
February 2014: Human Reproduction
https://www.readbyqxmd.com/read/24047479/genomic-imbalance-defines-three-prognostic-groups-for-risk-stratification-of-patients-with-chronic-lymphocytic-leukemia
#19
Jane Houldsworth, Asha Guttapalli, Venkata Thodima, Xiao Jie Yan, Geetu Mendiratta, Tania Zielonka, Gouri Nanjangud, Weiyi Chen, Sujata Patil, Anthony Mato, Jennifer R Brown, Kanti Rai, Nicholas Chiorazzi, R S K Chaganti
Array comparative genomic hybridization (aCGH) has yet to be fully leveraged in a prognostic setting in chronic lymphocytic leukemia (CLL). Genomic imbalance was assessed in 288 CLL specimens using a targeted array. Based on 20 aberrations in a hierarchical manner, all 228 treatment-naive specimens were classified into a group with poor outcome (20.6%) exhibiting at least one aberration that was univariately associated with adverse outcome (gain: 2p, 3q, 8q, 17q, loss: 7q, 8p, 11q, 17p, 18p), good outcome (32...
April 2014: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/23942094/novel-clinically-relevant-genes-in-gastrointestinal-stromal-tumors-identified-by-exome-sequencing
#20
Sebastian F Schoppmann, Ursula Vinatzer, Niko Popitsch, Martina Mittlböck, Sandra Liebmann-Reindl, Gerd Jomrich, Berthold Streubel, Peter Birner
PURPOSE: Chromosomal gains and losses resulting in altered gene dosage are known to be recurrent in gastrointestinal stromal tumors (GIST). The aim of our study was the identification of clinical relevant genes in these candidate regions. MATERIAL AND METHODS: A cohort of 174 GIST was investigated using DNA array (n = 29), FISH (n = 125), exome sequencing (n = 13), and immunohistochemistry (n = 145). RESULTS: Array analysis revealed recurrent copy number variations (CNVs) of chromosomal arms 1p, 1q, 3p, 4q, 5q, 7p, 11q, 12p, 13q, 14q, 15q, and 22q...
October 1, 2013: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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