Results 11 to 20 of about 175,797 (297)

Findings from ACGH in patient with psychomotor delay-case report

Genetics & Applications, 2019
Initial testing of children with psychomotor delays considers karyotype analysis and metabolic tests. However, introduction of Array Comparative Genomic Hybridization (ACGH) has become the standard method of diagnostics worldwide.
Vanja Vidović, Nela Maksimović, Tatjana Damnjanović, Biljana Jekić, Irina Milovac, Milka Grk, Stojko Vidović   +6 more
doaj   +1 more source

Comparative Genomic Hybridization (CGH) in Genotoxicology [PDF]

, 2013
In the past two decades comparative genomic hybridization (CGH) and array CGH have become crucial and indispensable tools in clinical diagnostics. Initially developed for the genome-wide screening of chromosomal imbalances in tumor cells, CGH as well as array CGH have also been employed in genotoxicology and most recently in toxicogenomics.
Baumgartner, Adi, Hartleb, Veronika, Taylor, Jim   +2 more
openaire   +5 more sources

Invasive melanoma in a 5-year-old Canadian patient: A case report

SAGE Open Medical Case Reports, 2019
Atypical Spitzoid lesions pose a distinct challenge in classification as they may comprise a mixture of both classic benign nevus and cutaneous melanoma characteristics.
Joanna Yuen, Fatmah AlZahrani, Garnet Horne, Karen Naert, Timothy McCalmont, Kathy Unger, Loretta Fiorillo   +6 more
doaj   +1 more source

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. Materials and Methods: A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang   +9 more
doaj   +1 more source

Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report

Journal of Medical Case Reports, 2023
Background The 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination ...
Azli Ismail, Fadly Ahid, Meow-Keong Thong, Zubaidah Zakaria   +3 more
doaj   +1 more source

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples [PDF]

, 2009
Background: It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in up to 50% of first trimester miscarriages, chromosomal abnormalities can be ...
Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman, T Hassold, V Jobanputra, M Goddijn, KA Bell, B Lomax, J Menasha, DL Bruno, D Diego-Alvarez, D Diego-Alvarez, DN Azmanov, M Daniely, B Fritz, Y Hu, A Kallioniemi, AC Tabet, J Berezowsky, B Menten, D Pinkel, S Solinas-Toldo, B Menten, K Benirschke, M Benkhalifa, M Nagaishi, AJ Schaeffer   +30 more
core   +1 more source

CGHScan: finding variable regions using high-density microarray comparative genomic hybridization data

BMC Genomics, 2006
Background Comparative genomic hybridization can rapidly identify chromosomal regions that vary between organisms and tissues. This technique has been applied to detecting differences between normal and cancerous tissues in eukaryotes as well as genomic ...
Rajashekara Gireesh, Glasner Jeremy D, Biehl Bryan S, Scott Abigail A, Gilson Michael C, Anderson Bradley D, Splitter Gary A, Perna Nicole T   +7 more
doaj   +1 more source

1p36 deletion syndrome confirmed by fluorescence hybridization and array-comparative genomic hybridization analysis [PDF]

Korean Journal of Pediatrics, 2016
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia ...
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
doaj   +1 more source

Comparative chromosome painting discloses homologous Segments in distantly related mammals [PDF]

, 1994
Comparative chromosome painting, termed ZOO-FISH, using DNA libraries from flow sorted human chromosomes 1,16,17 and X, and mouse chromosome 11 discloses the presence of syntenic groups in distantly related mammalian Orders ranging from primates (Homo
A Jauch, A Kallioniemi, A Lima-de-Faria, A Lima-de-Faria, Antonio Lima-de-Faria, B Dutrillaux, C Collins, C Lengauer, C Lengauer, C Lengauer, D Pinkel, D Pinkel, E Göttert, EP Evans, G Schriever-Schwemmer, GP Holmquist, GP Holmquist, H Neitzel, H Scherthan, H Scherthan, Harry Scherthan, Heinz-Ulrich Weier, HP Levy, J Hetzel, J Meyne, J Wienberg, J Wienberg, JA Adegoke, JAM Graves, JG Dauwerse, JW Breneman, K Miashita, Lutz Frönicke, M Klever, M Vooijs, M Yerle, MR Speicher, NE Morton, NG Copeland, P Lichter, R Stanyon, S du Manoir, S Liming, S Luke, S Ohno, SF Nelson, SJ O'Brien, SJ O'Brien, SJ O'Brien, T Ried, T Ried, Thomas Cremer, U Amason, U Arnason, Ulfur Arnason, WA Bickmore, XY Guan   +56 more
core   +1 more source

An HMM-based Comparative Genomic Framework for Detecting Introgression in Eukaryotes [PDF]

, 2013
One outcome of interspecific hybridization and subsequent effects of evolutionary forces is introgression, which is the integration of genetic material from one species into the genome of an individual in another species.
Dai, Jingxuan, Kohn, Michael H., Liu, Kevin J., Nakhleh, Luay, Song, Ying, Truong, Kathy   +5 more
core   +2 more sources