Results 41 to 50 of about 43,589 (247)

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies [PDF]

, 2015
Objectives To report clinical implementation of cell‐free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test.
BEVILACQUA, ELISA, E. Ordoñez, H. Dierickx, JC Jani, KH Nicolaides, MM Gil, PJ Willems, V. Cirigliano   +7 more
core   +1 more source

Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting

Diagnostics, 2022
This study aimed to compare the screening performance of genome-wide cfDNA testing for chromosomal abnormalities between two periods where additional findings were reported and not reported.
Angel H. W. Kwan, Xiaofan Zhu, Maria Mar Gil, Yvonne K. Y. Kwok, Isabella Y. M. Wah, Annie S. Y. Hui, Yuen-Ha Ting, Kwok-Ming Law, Doris Lau, Shuwen Xue, Kwong-Wai Choy, Daljit Sahota, Tak-Yeung Leung, Liona C. Poon   +13 more
doaj   +1 more source

New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY

Endocrine Connections, 2023
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12–14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We
Claus H Gravholt, Alberto Ferlin, Joerg Gromoll, Anders Juul, Armin Raznahan, Sophie van Rijn, Alan D Rogol, Anne Skakkebæk, Nicole Tartaglia, Hanna Swaab   +9 more
doaj   +1 more source

Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report

Pediatric Rheumatology Online Journal, 2021
Background Systemic lupus erythematosus is a multi-organ inflammatory autoimmune disease; immune complexes are part of the pathogenesis, but not entirely responsible.
Susumu Yamazaki, Yuko Akutsu, Asami Shimbo, Masaki Shimizu, Yuko Segawa, Masaaki Mori   +5 more
doaj   +1 more source

Patient Perception of Negative Non-Invasive Prenatal Testing Results [PDF]

, 2016
Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients
Wittman, Ann Theresa
core   +2 more sources

Non-random trisomies of chromosomes 5, 8 and 12 in the prolactinoma sub-type of pituitary adenomas: Conventional cytogenetics and interphase fish study [PDF]

International Journal of Cancer, 2000
Specimens from 53 pituitary adenomas (PAs), including 17 NFPA, 16 PRL-, 9 ACTH-, 9 GH- and 2 TSH-secreting tumors, underwent cytogenetic analysis by the direct and short-term culture methods. Only 8 tumors (15%) appeared to have an abnormal karyotype. To increase the resolution of cytogenetic analysis, direct preparations from 31 PAs were investigated ...
P. Finelli, D. Giardino, N. Rizzi, S. Buiatiotis, T. Virduci, A. Franzin, M. Losa, L. Larizza   +7 more
openaire   +3 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Prenatal diagnosis of mosaic trisomy 2 and literature review

Molecular Cytogenetics, 2020
Background We presented two cases of mosaic trisomy 2 with high risk of maternal serum screening and non-invasive prenatal testing (NIPT). The invasive amniocentesis was performed and genetic tests including karyotype, single nucleotide polymorphism ...
Ting Wang, Jufei Lian, Congmian Ren, Huamei Huang, Yanlin Huang, Ling Xu, Laiping Zheng, Chanhui Cai, Li Guo   +8 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Chromosomal Heterogeneity of the G-401 Rhabdoid Tumor Cell Line: Unusual Partial 7p Trisomy

Frontiers in Medicine, 2019
Rhabdoid tumor is a very aggressive and hardly curable pediatric malignancy. It commonly starts in the kidneys but also can occur in the brain, liver, and other organs. The treatment of this tumor usually involves a combination of surgery, radiation, and
Elizaveta Fasler-Kan, Elizaveta Fasler-Kan, Elizaveta Fasler-Kan, Nijas Aliu, Frank-Martin Haecker, Frank-Martin Haecker, Natalia Maltsev, Sabrina Ruggiero, Sabrina Ruggiero, Dietmar Cholewa, Dietmar Cholewa, Andreas Bartenstein, Andreas Bartenstein, Milan Milošević, Milan Milošević, Steffen M. Berger, Steffen M. Berger   +16 more
doaj   +1 more source