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Cytogenomics

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https://www.readbyqxmd.com/read/29721507/cytogenomic-integrative-network-analysis-of-the-critical-region-associated-with-wolf-hirschhorn-syndrome
#1
Thiago Corrêa, Rafaella Mergener, Júlio César Loguercio Leite, Marcial Francis Galera, Lilia Maria de Azevedo Moreira, José Eduardo Vargas, Mariluce Riegel
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades. The cytogenetic and clinical patient profiles were evaluated...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29671669/confirmation-and-refinement-of-the-heterozygous-deletion-of-the-small-leucine-rich-proteoglycans-associated-with-posterior-amorphous-corneal-dystrophy
#2
Aleck E Cervantes, Katherine M Gee, Martha F Whiting, Ricardo F Frausto, Anthony J Aldave
PURPOSE: To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a heterozygous deletion of the small leucine-rich proteoglycan (SRLP) genes on chromosome 12. METHODS: Clinical characterization was performed using slit lamp biomicroscopic and optical coherence tomography (OCT) imaging. Genomic DNA was collected from affected and unaffected family members, and a cytogenomic array was used to identify copy number variations (CNV) present in the PACD locus...
April 19, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29606910/a-postgenomic-perspective-on-molecular-cytogenetics
#3
Henry H Heng, Steven D Horne, Sophia Chaudhry, Sarah M Regan, Guo Liu, Batoul Y Abdallah, Christine J Ye
Background: The postgenomic era is featured by massive data collection and analyses from various large scale-omics studies. Despite the promising capability of systems biology and bioinformatics to handle large data sets, data interpretation, especially the translation of -omics data into clinical implications, has been challenging. Discussion: In this perspective, some important conceptual and technological limitations of current systems biology are discussed in the context of the ultimate importance of the genome beyond the collection of all genes...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606904/4q21-2q21-3-duplication-molecular-and-neuropsychological-aspects
#4
REVIEW
Ivan Y Iourov, Maria A Zelenova, Svetlana G Vorsanova, Victoria V Voinova, Yuri B Yurov
During the last decades, a large amount of newly described microduplications and microdeletions associated with intellectual disability (ID) and related neuropsychiatric diseases have been discovered. However, due to natural limitations, a significant part of them has not been the focus of multidisciplinary approaches. Here, we address previously undescribed chromosome 4q21.2q21.3 microduplication for gene prioritization, evaluation of cognitive abilities and estimation of genomic mechanisms for brain dysfunction by molecular cytogenetic (cytogenomic) and gene expression (meta-) analyses as well as for neuropsychological assessment...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29606902/behavioral-variability-and-somatic-mosaicism-a-cytogenomic-hypothesis
#5
REVIEW
Svetlana G Vorsanova, Maria A Zelenova, Yuri B Yurov, Ivan Y Iourov
Behavioral sciences are inseparably related to genetics. A variety of neurobehavioral phenotypes are suggested to result from genomic variations. However, the contribution of genetic factors to common behavioral disorders (i.e. autism, schizophrenia, intellectual disability) remains to be understood when an attempt to link behavioral variability to a specific genomic change is made. Probably, the least appreciated genetic mechanism of debilitating neurobehavioral disorders is somatic mosaicism or the occurrence of genetically diverse (neuronal) cells in an individual's brain...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29593472/call-for-nomination-of-members-of-the-international-standing-committee-of-human-cytogenomic-nomenclature
#6
(no author information available yet)
No abstract text is available yet for this article.
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29492108/human-ring-chromosome-registry-for-cases-in-the-chinese-population-re-emphasizing-cytogenomic-and-clinical-heterogeneity-and-reviewing-diagnostic-and-treatment-strategies
#7
REVIEW
Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29443947/vertebrate-genome-evolution-in-the-light-of-fish-cytogenomics-and-rdnaomics
#8
REVIEW
Radka Symonová, W Mike Howell
To understand the cytogenomic evolution of vertebrates, we must first unravel the complex genomes of fishes, which were the first vertebrates to evolve and were ancestors to all other vertebrates. We must not forget the immense time span during which the fish genomes had to evolve. Fish cytogenomics is endowed with unique features which offer irreplaceable insights into the evolution of the vertebrate genome. Due to the general DNA base compositional homogeneity of fish genomes, fish cytogenomics is largely based on mapping DNA repeats that still represent serious obstacles in genome sequencing and assembling, even in model species...
February 14, 2018: Genes
https://www.readbyqxmd.com/read/29428286/the-use-of-chromosomal-microarray-analysis-in-prenatal-diagnosis
#9
REVIEW
Melissa Stosic, Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) identifies microdeletions and duplications undetected on karyotype analysis. Copy number variants (CNVs) occur in 1% to 1.7% of all pregnancies, with clinical implications. All women undergoing invasive testing for routine indications should be offered microarray. Clinically significant CNVs are seen in approximately 6% of pregnancies with ultrasound anomalies, making CMAs the current standard of cytogenomic analysis. Clinicians should be familiar with different technologies and laboratory reporting practices...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29385416/integrated-analysis-of-her2-copy-number-by-cytogenomic-microarray-in-breast-cancers-with-nonclassical-in-situ-hybridization-results
#10
Gloria T Haskell, Yajuan J Liu, Hui Chen, Beiyun Chen, Reid G Meyer, Jason A Yuhas, Katherine B Geiersbach
Objectives: To develop and test an integrated approach to human epidermal growth factor receptor 2 (HER2) copy number analysis in breast cancer using in situ hybridization (ISH) and cytogenomic microarray (CMA). Methods: CMA was performed on four clinical breast cancer samples with nonclassical patterns of HER2 ISH results. Integrated analysis was performed by correlating the data from pathology review, ISH, and CMA. Results: Integrated analysis provided a more comprehensive view of the genomic copy number landscape that informed HER2 copy number analysis, but ISH provided essential data in all cases...
January 29, 2018: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29368383/clinical-and-cytogenomic-findings-in-oav-spectrum
#11
Silvia Bragagnolo, Mileny E S Colovati, Malu Z Souza, Anelise G Dantas, Maria F F de Soares, Maria I Melaragno, Ana B Perez
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia. Most cases are sporadic and the etiology of this syndrome is not well known...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29367880/cytogenomic-identification-and-long-read-single-molecule-real-time-smrt-sequencing-of-a-bardet-biedl-syndrome-9-bbs9-deletion
#12
Jennifer Reiner, Laura Pisani, Wanqiong Qiao, Ram Singh, Yao Yang, Lisong Shi, Wahab A Khan, Robert Sebra, Ninette Cohen, Arvind Babu, Lisa Edelmann, Ethylin Wang Jabs, Stuart A Scott
Bardet-Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 20 genes have been implicated in BBS, and all are involved in primary cilia function. We report a 1-year-old male child from Guyana with obesity, postaxial polydactyly on his right foot, hypotonia, ophthalmologic abnormalities, and developmental delay, which together indicated a clinical diagnosis of BBS...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29351983/partial-tandem-duplication-of-kmt2a-mll-may-predict-a-subset-of-myelodysplastic-syndrome-with-unique-characteristics-and-poor-outcome
#13
LETTER
Sarah M Choi, Rajan Dewar, Patrick W Burke, Lina Shao
No abstract text is available yet for this article.
March 2018: Haematologica
https://www.readbyqxmd.com/read/29246535/cytogenomic-analysis-of-several-repetitive-dna-elements-in-turbot-scophthalmus-maximus
#14
Xoana Taboada, Magalí Rey, Carmen Bouza, Ana Viñas
Repetitive DNA plays a fundamental role in the organization, size and evolution of eukaryotic genomes. The sequencing of the turbot revealed a small and compact genome, as in all flatfish studied to date. The assembly of repetitive regions is still incomplete because it is difficult to correctly identify their position, number and array. The combination of classical cytogenetic techniques along with high quality sequencing is essential to increase the knowledge of the structure and composition of these sequences and, thus, of the structure and function of the whole genome...
February 20, 2018: Gene
https://www.readbyqxmd.com/read/29153098/high-amplification-levels-of-mdm2-and-cdk4-correlate-with-poor-outcome-in-patients-with-dedifferentiated-liposarcoma-a-cytogenomic-microarray-analysis-of-47-cases
#15
Robert W Ricciotti, Aaron J Baraff, George Jour, McKenna Kyriss, Yu Wu, Yuhua Liu, Shao-Chun Li, Benjamin Hoch, Yajuan J Liu
Dedifferentiated liposarcoma (DDLS) is characterized at the molecular level by amplification of genes within 12q13-15 including MDM2 and CDK4. However, other than FNCLCC grade, prognostic markers are limited. We aim to identify molecular prognostic markers for DDLS to help risk stratify patients. To this end, we studied 49 cases of DDLS in our institutional archives and performed cytogenomic microarray analysis on 47 cases. Gene copy numbers for 12 loci were evaluated and correlated with outcome data retrieved from our institutional electronic medical records...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29140408/philadelphia-chromosome-like-mixed-phenotype-acute-leukemia-demonstrating-p2ry8-crlf2-fusion-and-jak1-mutation
#16
Sarah M Choi, John K Frederiksen, Charles W Ross, Dale L Bixby, Lina Shao
Objectives: Philadelphia chromosome-like (Ph-like) genetic alterations define a subset of B lymphoblastic leukemia/lymphoma (B-ALL), which represents a separate provisional entity in the World Health Organization 2016 updated classification. However, these alterations have not been described outside the context of B-ALL. Methods: Cytogenomic array and molecular analysis identified a Ph-like signature in a mixed-phenotype acute leukemia (MPAL), B/myeloid, confirmed using conventional immunophenotypic and cytochemical analysis...
November 20, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29075328/comparative-cytogenetics-in-three-sciaenid-species-teleostei-perciformes-evidence-of-interspecific-chromosomal-diversification
#17
Dongdong Xu, Wagner Franco Molina, Cassia Fernanda Yano, Yurong Zhang, Ezequiel Aguiar de Oliveira, Bao Lou, Marcelo de Bello Cioffi
BACKGROUND: Species belonging to the Sciaenidae family present a karyotype composed by 48 acrocentric chromosomes and are thus considered a striking example of chromosomal conservation. In this family, three species are extensively studied including Larimichthys crocea , Larimichthys polyactis and Nibea albiflora due to their importance in fishery and aquaculture in East Asia. Despite abundant data of population genetics available for some of them, cytogenetic information on these species is still scarce and obtained by conventional cytogenetic protocols...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29069255/cytogenomic-assessment-of-the-diagnosis-of-93-patients-with-developmental-delay-and-multiple-congenital-abnormalities-the-brazilian-experience
#18
Évelin Aline Zanardo, Roberta Lelis Dutra, Flavia Balbo Piazzon, Alexandre Torchio Dias, Gil Monteiro Novo-Filho, Amom Mendes Nascimento, Marília Moreira Montenegro, Jullian Gabriel Damasceno, Fabrícia Andreia Rosa Madia, Thaís Virgínia Moura Machado da Costa, Maria Isabel Melaragno, Chong Ae Kim, Leslie Domenici Kulikowski
OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients...
October 2017: Clinics
https://www.readbyqxmd.com/read/29024107/multispeed-genome-diploidization-and-diversification-after-an-ancient-allopolyploidization
#19
Terezie Mandáková, Milan Pouch, Klára Harmanová, Shing Hei Zhan, Itay Mayrose, Martin A Lysak
Hybridization and genome doubling (allopolyploidy) have led to evolutionary novelties as well as to the origin of new clades and species. Despite the importance of allopolyploidization, the dynamics of postpolyploid diploidization (PPD) at the genome level has been only sparsely studied. The Microlepidieae (MICR) is a crucifer tribe of 17 genera and c. 56 species endemic to Australia and New Zealand. Our phylogenetic and cytogenomic analyses revealed that MICR originated via an intertribal hybridization between ancestors of Crucihimalayeae (n = 8; maternal genome) and Smelowskieae (n = 7; paternal genome), both native to the Northern Hemisphere...
November 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29023226/contrasting-evolutionary-paths-among-indo-pacific-pomacentrus-species-promoted-by-extensive-pericentric-inversions-and-genome-organization-of-repetitive-sequences
#20
Nuntaporn Getlekha, Marcelo de Bello Cioffi, Nuntiya Maneechot, Luiz Antônio Carlos Bertollo, Weerayuth Supiwong, Alongklod Tanomtong, Wagner Franco Molina
Pomacentrus (damselfishes) is one of the most characteristic groups of fishes in the Indo-Pacific coral reef. Its 77 described species exhibit a complex taxonomy with cryptic lineages across their extensive distribution. Periods of evolutionary divergences between them are very variable, and the cytogenetic events that followed their evolutionary diversification are largely unknown. In this respect, analyses of chromosomal divergence, within a phylogenetic perspective, are particularly informative regarding karyoevolutionary trends...
February 2018: Zebrafish
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