Results 31 to 40 of about 109,479 (290)

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S, Parks, W Tony, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +4 more
core   +1 more source

Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

Clinics and Practice, 2016
A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses.
Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita   +2 more
doaj   +1 more source

Genomic alterations in primary gastric adenocarcinomas correlate with clinicopathological characteristics and survival. [PDF]

, 2004
Background & aimsPathogenesis of gastric cancer is driven by an accumulation of genetic changes that to a large extent occur at the chromosomal level. In order to investigate the patterns of chromosomal aberrations in gastric carcinomas, we performed
Albertson, Donna, Kuipers, Ernst J, Meijer, Gerrit A, Meuwissen, Stefan GM, Pinkel, Daniel, Postma, Cindy, Snijders, Antoine M, Weiss, Marjan M   +7 more
core   +3 more sources

Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis [PDF]

Journal of Cellular and Molecular Medicine, 2020
AbstractTo investigate the incidence and clinical significance of chromosomal mosaicism (CM) in prenatal diagnosis by G‐banding karyotyping and chromosomal microarray analysis (CMA). This is a single‐centre retrospective study of invasive prenatal diagnosis for CM.
Yi Zhang, Mei Zhong, Dezhong Zheng
openaire   +2 more sources

Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

Molecular Cytogenetics, 2018
Background Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes.
Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan, Murat Erdogan   +5 more
doaj   +1 more source

Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia [PDF]

, 2019
Introduction Chromosomal abnormalities are frequent events in hematological malignancies. The degree of HLA compatibility between donor and recipient in hematopoietic stem cell transplantation is critical.
Breman, Amy M., Britton, Rebecca M., Cui, Connie P., Farag, Sherif S., Kashi, Zahra, Krueger-Sersen, Mary, Littrell, Courtney A., Lobashevsky, Andrew L., Martin, Russ K., Singh, Susmita, Vance, Gail H.   +10 more
core   +1 more source

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization

Molecular Cytogenetics, 2021
Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17 ...
Zhanna G. Markova, Marina E. Minzhenkova, Lyudmila A. Bessonova, Nadezda V. Shilova   +3 more
doaj   +1 more source

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family

Molecular Cytogenetics, 2022
Background Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism ...
Wenjuan Tang, Guowei Chen, Jingshu Xia, Ying Zhang   +3 more
doaj   +1 more source

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]

, 2015
BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao, Clemens, Michelle, Peters, David G, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +5 more
core   +2 more sources

“What if There's Something Wrong with Her?”‐How Biomedical Technologies Contribute to Epistemic Injustice in Healthcare [PDF]

, 2020
While there is a steadily growing literature on epistemic injustice in healthcare, there are few discussions of the role that biomedical technologies play in harming patients in their capacity as knowers.
Alexander Michelle, Bell Christopher M., Burke W., Calvillo Jorge, Clark Michelle M., Coady David, Daniels Norman, Davis Lennard J, Davis Lennard J, Davis Lennard J, Ferri Beth, Foucault Michel, Foucault Michel, Garland‐Thomson Rosemarie, Jay Bethany, Kahneman Daniel, Kasnitz Devva, Kidd Ian James, Koopman Colin, Kukla Rebecca, Lombardo Paul A., Mauldin Laura, McWhorter Ladelle, Mills Charles, Nielsen Kim E., Reardon Jenny, Reiheld Alison, Reynolds Joel Michael, Reynolds Joel Michael, Reynolds Joel Michael, Ross L., Silvers Anita, Waldschmidt Anne, Washington Harriet A.   +33 more
core   +1 more source