Results 11 to 20 of about 80,578 (289)

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

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

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

Tracking the evolutionary pathways among Brazilian Lebiasina species (Teleostei: Lebiasinidae): a chromosomal and genomic comparative investigation [PDF]

Neotropical Ichthyology, 2022
Despite several difficulties in chromosomal analyses of small-sized fishes, the cytogenetics of the Lebiasinidae was largely improved in the last years, showing differential patterns in the chromosomal evolution inside the family. In this context, it has
Priscila Polaquini de Macedo Leite, Francisco de Menezes Cavalcante Sassi, Manoela Maria Ferreira Marinho, Mauro Nirchio, Renata Luiza Rosa de Moraes, Gustavo Akira Toma, Luiz Antonio Carlos Bertollo, Marcelo de Bello Cioffi   +7 more
doaj   +1 more source

Genomic complexity in pediatric synovial sarcomas (Synobio study): the European pediatric soft tissue sarcoma group (EpSSG) experience

Cancer Medicine, 2018
A genomic index (GI) tool using array comparative genomic hybridization (aCGH) on tumor cells has emerged as independent prognostic factor associated with the risk of metastatic relapse in synovial sarcoma (SS).
Daniel Orbach, Véronique Mosseri, Daniel Pissaloux, Gaelle Pierron, Bernadette Brennan, Andrea Ferrari, Frederic Chibon, Gianni Bisogno, Gian Luca De Salvo, Camille Chakiba, Nadège Corradini, Véronique Minard‐Colin, Anna Kelsey, Dominique Ranchère‐Vince   +13 more
doaj   +1 more source

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

Molecular Cytogenetics, 2012
Background Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods.
Palumbo Orazio, Palumbo Pietro, Palladino Teresa, Stallone Raffaella, Zelante Leopoldo, Carella Massimo   +5 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of three chromosomal abnormalities with favorable outcomes

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: Here we present three cases of chromosomal abnormalities with favorable outcomes. Case report: In Case 1, conventional karyotyping revealed a karyotype of 46, XY,t(7; 14) (q35; q13)[4]/46,XY[26].
Qiuqing Chen, Zhen Xu, Guoqiang Chen, Sha Liu, Yanzhi Xia   +4 more
doaj   +1 more source