Cytogenomic characteristics of murine breast cancer cell line JC
Breast cancer (BC), one of the most frequent human tumors, is genetically and histologically heterogeneous. Treatment options can be adapted according to BC subtype. Still, research is necessary to characteriz... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 1, 2021 Category: Molecular Biology Authors: Shaymaa Azawi, Martina Rincic and Thomas Liehr Tags: Research Source Type: research
Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature
Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044% in newborns that increases up to almost 7 times in developmentally reta... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 20, 2021 Category: Molecular Biology Authors: Eleonora Marchina, Michela Forti, Mariella Tonelli, Stefania Maccarini, Francesca Malvestiti, Chiara Piantoni, Elena Filippini, Elisa Fazzi and Giuseppe Borsani Tags: Case Report Source Type: research
Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review
Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 15, 2021 Category: Molecular Biology Authors: Xinyue Zhang, Fagui Yue, Qingyang Shi, Yuting Jiang, Jing He, Leilei Li and Ruizhi Liu Tags: Case Report Source Type: research
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan
Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This s... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 9, 2021 Category: Molecular Biology Authors: Malgorzata Ilona Srebniak, Maarten F. C. M. Knapen, Marieke Joosten, Karin E. M. Diderich, Sander Galjaard and Diane Van Opstal Tags: Hypothesis Source Type: research
Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?
Deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 6, 2021 Category: Molecular Biology Authors: Beyhan Durak Aras, Sevgi Isik, Hava Uskudar Teke, Abdulvahap Aslan, Filiz Yavasoglu, Zafer Gulbas, Fatih Demirkan, Hulya Ozen, Oguz Cilingir, Nur Sena Inci, Gulcin Gunden, Tuba Bulduk, Ebru Erzurumluoglu Gokalp, Sinem Kocagil, Sevilhan Artan and Olga Melt Tags: Research Source Type: research
Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report
Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 6, 2021 Category: Molecular Biology Authors: Nuria Balaguer, Emilia Mateu-Brull, Roy P. Naja, Jara B. Nagi and Miguel Mil án Tags: Case Report Source Type: research
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in po... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 6, 2021 Category: Molecular Biology Authors: Xinran Lu, Chaohong Wang, Yuxiu Sun, Junxiang Tang, Keting Tong and Jiansheng Zhu Tags: Research Source Type: research
Confined placental mosaicism of Duchenne muscular dystrophy: a case report
Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance. To the best of our knowledge, this is the first reporte... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 17, 2020 Category: Molecular Biology Authors: Max Winerdal, Eini Westenius, Michaela Granfors, Maria Pettersson and Erik Iwarsson Tags: Case Report Source Type: research
Detailed molecular cytogenetic characterisation of the myeloid cell line U937 reveals the fate of homologous chromosomes and shows that centromere capture is a feature of genome instability
The U937 cell line is widely employed as a research tool. It has a complex karyotype. A PICALM-MLLT10 fusion gene formed by the recurrent t(10;11) translocation is present, and the myeloid common deleted region a... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 14, 2020 Category: Molecular Biology Authors: Ruth N. MacKinnon, Joanne Peverall, Lynda J. Campbell and Meaghan Wall Tags: Research Source Type: research
Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast
Periductal stromal tumors of the breast are exceedingly rare biphasic breast tumors with close morphological relationship to phyllodes tumors. So far, results of genetic analyses on these tumors have not been ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 23, 2020 Category: Molecular Biology Authors: Carsten Holzmann, Burkhard Helmke and Joern Bullerdiek Tags: Case Report Source Type: research
Identification and characterization of satellite DNAs in Poa L.
Poa L. is a large genus of grass in Gramineae, among which P. pratensis is widely cultivated as turf and forage. Satellite DNA is the main components of the plant genome. Information of satellites will helpful fo... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 16, 2020 Category: Molecular Biology Authors: Linna Wei, Bo Liu, Chunping Zhang, Yang Yu, Xiaoxia Yang, Quanwen Dou and Quanmin Dong Tags: Research Source Type: research
A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report
Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in human... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 16, 2020 Category: Molecular Biology Authors: Li Gao, Junyu Zhang, Xu Han, Wenjing Hu, Jinling Sun, Yuru Tan, Xinrong Zhao, Renyi Hua, Shan Wang, Yan Zhang, Yanlin Wang and Yi Wu Tags: Case Report Source Type: research
Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report
Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who pr... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 13, 2020 Category: Molecular Biology Authors: Paola E. Leone, Ver ónica Yumiceba, Ariana Jijón-Vergara, Andy Pérez-Villa, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Santiago Guerrero, Patricia Guevara-Ramírez, Andrés López-Cortés, Ana K. Zambrano, Jesús M. Hernández-Rivas, Ju Tags: Case Report Source Type: research
De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication
Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad sp... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 12, 2020 Category: Molecular Biology Authors: Abul Kalam Azad, Lindsay Yanakakis, Samantha Issleb, Jessica Turina, Kelli Drabik, Christina Bonner, Eve Simi, Andrew Wagner, Morry Fiddler and Rizwan Naeem Tags: Case Report Source Type: research
A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome
B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL case... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 11, 2020 Category: Molecular Biology Authors: Abdulsamad Wafa, Rami A. Jarjour, Doaa Alolabi, Thomas Liehr, Othman Hamdan, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar Tags: Case Report Source Type: research
