Results 51 to 60 of about 5,960 (128)

Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue

Molecular Cytogenetics, 2010
Background Trisomy of chromosome 21 (T21; Down syndrome, DS) is the most common aneuploidy in live births. Though its etiology has been intensively studied for a half of century, there are surprisingly many problems awaiting their elucidation.
Kovaleva Natalia V
doaj   +1 more source

Evaluating Scoring Mechanisms for Measuring the Stroop Effect in Individuals With Down Syndrome

Journal of Intellectual Disability Research, Volume 70, Issue 10, Page 1051-1062, October 2026.
ABSTRACT Background The Cat/Dog Stroop task is a modification of the original Stroop task as a measure of cognitive inhibition frequently used in studies of individuals with Down syndrome (DS). There is great heterogeneity in scoring mechanisms for this task and similar Stroop tasks, potentially impacting convergence of and interpretation of study ...
E. Denne, D. Fidler, S. Wiley, S. Williams, A. J. Esbensen   +4 more
wiley   +1 more source

Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome. Case report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Chi Lee, Wayseen Wang   +8 more
doaj   +1 more source

High‐Content CRISPR Screening: Methods and Applications

MedComm, Volume 7, Issue 9, September 2026.
High‐content CRISPR screening represents a paradigm shift in functional genomics, moving beyond traditional survival‐based readouts to enable multidimensional mapping of genotype–phenotype relationships. This review systematically outlines the methodological evolution of this approach, detailing advances in perturbation modalities, delivery systems ...
Yike Zhang, Yimeng Zhang, Xudong Tang, Xinyu Deng, Yitian Zhou, Yanfeng Wu, Jianhua Luo   +6 more
wiley   +1 more source

Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

Case Reports in Genetics, 2014
We report a case of a neonate who was shown with routine chromosome analysis on peripheral blood lymphocytes to have full monosomy 21. Further investigation on fibroblast cells using conventional chromosome and FISH analysis revealed two additional ...
Trent Burgess, Lilian Downie, Mark D. Pertile, David Francis, Melissa Glass, Sara Nouri, Rosalynn Pszczola   +6 more
doaj   +1 more source

Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21. [PDF]

Cold Spring Harb Mol Case Stud, 2021
Baca N, Sanchez-Lara PA, Schreck R, Eno CC, Majlessipour F.   +4 more
europepmc   +1 more source

Recognition of Patau Syndrome (Trisomy 13) Based on Clinical Features in a Resource‐Limited Setting: A Case Report [PDF]

Clin Case Rep
ABSTRACT Patau syndrome (trisomy 13) is a life‐limiting chromosomal disorder with multiple congenital anomalies. We report a term male neonate with bilateral cleft lip and palate, aplasia cutis congenita, postaxial polydactyly, hypotonia, congenital heart disease, and presumed neonatal sepsis.
Amiri S, Anwari N, Hossaini D, Qiam A, Haidary M.   +4 more
europepmc   +2 more sources

Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype

Molecular Genetics and Metabolism Reports
Background: Transient abnormal myelopoiesis (TAM) is a congenital leukemia specific to neonates with Down syndrome (DS) or trisomy 21. However, rare cases of TAM can also occur with acquired trisomy 21 mutations or mosaic trisomy 21, leading to potential
Junpeng Cai, Xiaomin Zhou, Yu Zhou, Guanghuan Pi   +3 more
doaj   +1 more source

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome. Case Report: A 26-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang   +6 more
doaj   +1 more source

Cytogenetic study of down syndrome in Algeria: Report and review

Journal of Medical Sciences, 2016
Background: Down syndrome (DS) is the most common type of chromosomal trisomy found in newborn. It is associated with mental retardation and characteristic facial features. A clinical diagnosis of DS may be unconfirmed in one-third of cases.
Fayza Belmokhtar, Rahma Belmokhtar, Ahmed Kerfouf   +2 more
doaj   +1 more source