• "Down Syndrome is Not a Curse": parent Perspectives on the Medicalization of Down Syndrome
• A Case of Infective Endocarditis in a Middle-Aged Patient With Trisomy 21 and an Incidentally Discovered Patent Foramen Ovale (PFO)
• A case of trisomy 9 with mixed-field ABO blood type
• A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching
• A human fetal cerebellar map of the late second trimester reveals developmental molecular characteristics and abnormality in trisomy 21
• A Novel Use of Embryonic Gut Organoid Culture to Investigate Duodenal Atresia
• A rare presentation and treatment challenges for multiple myeloma in down syndrome: A case report and literature review
• Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature
• Advancements of non-invasive prenatal testing: the role of obstetricians
• An investigation of sleep problems, gastrointestinal symptoms, comorbid psychopathology and challenging behavior in children and adolescents with Down Syndrome
• An Unusual Increase in the CD38 Marker Observed in a Multiple Myeloma Patient With t(11;14) Translocation: A Case Report
• Analysis of microisolated frontal cortex excitatory layer III and V pyramidal neurons reveals a neurodegenerative phenotype in individuals with Down syndrome
• Assessing amyloid PET positivity and cognitive function in Down syndrome to guide clinical trials targeting amyloid
• Bruxism in a Child with Trisomy 21 (Down Syndrome)-Case Report
• Cell-free DNA test for fetal chromosomal abnormalities in multiple pregnancies
• Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain
• Characterization of the anterior segment in Trisomy 21-associated cataract using ultrasound biomicroscopy
• Characterizing primary transcriptional responses to short term heat shock in Down syndrome
• Chromosome 9p trisomy increases stem cells clonogenic potential and fosters T-cell exhaustion in JAK2-mutant myeloproliferative neoplasms
• Clinical features associated with maternal uniparental disomy for chromosome 6
• Clinicopathological and molecular genetic features of confined placental mosaicism
• Combined Application of Multiple Techniques in Prenatal Diagnosis of a Fetus with Turner Syndrome
• Comparison of two superparamagnetic purification magnetic beads-based screening and enrichment techniques for isolating cell-free fetal DNA from maternal plasma for non-invasive prenatal screening
• Confined placental mosaicism with trisomy 13 complicated by severe preeclampsia: A case report and literature review
• Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes
• Correlation between fetal ventricular echogenic foci in pregnancy and fetus chromosomal anomaly: a case-control study in Bandar Abbas city
• Corrigendum: One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosage
• Craniofacial and Airway Morphology in Down Syndrome: A Cone Beam Computed Tomography Case Series Evaluation
• Creation of a Pediatric Sedation Risk Assessment Scoring System: A Novel Method to Stratify Risk
• Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer's disease fold
• Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling
• Dissecting the contribution of human chromosome 21 syntenic regions to recognition memory processes in adult and aged mouse models of Down syndrome
• Does a subset of mature T-cell leukemias with features akin to T-cell prolymphocytic leukemia but lacking rearrangement of the <em>TCL1</em> represent peripheral T-cell lymphoma, NOS in a leukemic phase?
• Down syndrome and associated atrioventricular septal defects in a nationwide Norwegian cohort: Prevalence, time trends, and outcomes
• Down syndrome-associated leukaemias: current evidence and challenges
• Extracranial metastatic oligodendroglioma with molecular progression, case presentation
• False negative non-invasive prenatal testing (NIPT) result for trisomy 7 and false positive NIPT result for trisomy 2 in a pregnancy associated with low-level mosaic trisomy 7 at amniocentesis and a favorable outcome
• GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development
• Giant Umbilical Cord due to Excessive Wharton's Jelly
• Global analysis of gene expression in response to double trisomy loquat (Eriobotrya japonica)
• Guideline for treating relapsed or refractory myeloid leukemia in children with Down syndrome
• Hidradenitis suppurativa in patients with trisomy 13: a scoping review
• Hippocampal CA1 Pyramidal Neurons Display Sublayer and Circuitry Dependent Degenerative Expression Profiles in Aged Female Down Syndrome Mice
• Human Genetics of Hypoplastic Left Heart Syndrome
• Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle
• Human Genetics of Tricuspid Atresia and Univentricular Heart
• Human Genetics of Ventricular Septal Defect
• Hybrid treat-and-repair strategy for large patent ductus arteriosus: a proof-of-concept case report
• Impact of definitive surgery for esophageal atresia on long-term outcomes in patients with trisomy 18
• Impact of Structural Differences on the Modeled Cost-Effectiveness of Noninvasive Prenatal Testing
• Incidentally revealing of CHD in a 52 year-old man: Case report and literature review
• Infertility following trisomic pregnancies: A nationwide cohort study
• Initial Respiratory System Involvement in Juvenile Idiopathic Arthritis with Systemic Onset Is a Marker of Interstitial Lung Disease: The Results of Retrospective Cohort Study Analysis
• Intermittent apnoea and manual jet ventilation: A successful anesthetic management for infant with acquired Myer-Cotton class III subglottic stenosis undergoing endoscopic balloon dilatation
• Internalizing Psychiatric Symptoms in People with Mosaicism for Trisomy 21
• JAK inhibition decreases the autoimmune burden in Down syndrome
• Ketoconazole induces reversible antifungal drug tolerance mediated by trisomy of chromosome R in Candida albicans
• Lamivudine modulates the expression of neurological impairment-related genes and LINE-1 retrotransposons in brain tissues of a Down syndrome mouse model
• Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome
• Management and outcomes of congenital nasolacrimal duct obstruction in trisomy 21 patients vs. non-trisomy 21 patients within a paediatric population: a 5-year follow-up
• Management and Outcomes of Hepatoblastoma in Patients With Trisomy 18: A Systematic Review and Pooled Analysis of 70 Patients
• Medical Findings in Infants Prenatally Identified with Sex Chromosome Trisomy in Year One of Life
• Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart
• Mosaicism for Autosomal Trisomies: A Comprehensive Analysis of 1266 Published Cases Focusing on Maternal Age and Reproductive History
• Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome
• Opioid and benzodiazepine requirements in critically ill post-surgical children with down syndrome: a systematic review and meta-analysis
• Optic Atrophy due to Moyamoya Disease in Trisomy 21
• Orthodontic findings in adults with Trisomy 21
• Papillary renal neoplasm with reverse polarity has low frequency of alterations in chromosomes 7, 17, and Y
• Performance analysis of non-invasive prenatal testing for trisomy 13, 18, and 21: A large-scale retrospective study (2018-2021)
• Phenotypic and cytogenetic variability of patau syndrome in Morocco
• Post-infectious Moyamoya Syndrome: A Review of Existing Scientific Literature From 2000 to 2023
• Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis
• Practicalities (and real-life experiences) of dementia in adults with Down syndrome
• Prediction of chromosomal abnormalities in the screening of the first trimester of pregnancy using machine learning methods: a study protocol
• Premature aging in aneuploid yeast is caused in part by aneuploidy-induced defects in Ribosome Quality Control
• Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18
• Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry
• Primary surgical repair of tetralogy of fallot at the Uganda Heart Institute: a ten-year review of 30day mortality and morbidity
• Rapid detection of paternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction analysis in a fetus associated with increased nuchal translucency thickness and in a pregnancy without an advanced maternal age
• Rare Autosomal Trisomies and Adverse Perinatal Outcomes
• Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases
• Sex specific emergence of trisomic Dyrk1a-related skeletal phenotypes in the development of a Down syndrome mouse model
• Sex-biasing influence of autism-associated <em>Ube3a</em> gene overdosage at connectomic, behavioral, and transcriptomic levels
• Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome
• Spinal Atypical Teratoid Rhabdoid Tumor in a 14-Year-old Child With Down Syndrome: A Case Report
• Structural screening and molecular simulation identify potential ligands against the K700E hot spot variant and functional pockets of SF3B1 to modulate splicing in myelodysplastic syndrome
• Surgery for hepatoblastoma in children with trisomy 18: a monocentric study
• Surgical management of an ectopic pregnancy in the setting of an unexpected Müllerian anomaly - intraoperative and postoperative implications
• Surgical management of an ectopic pregnancy in the setting of an unexpected Müllerian anomaly: intraoperative and postoperative implications
• Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being
• The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases
• The relationship between thyroid autoantibodies and X chromosome monosomy in the chorionic tissue of patients with missed miscarriage
• THE RISK FOR CLINICALLY SIGNIFICANT COPY NUMBER VARIANTS IN PREGNANCIES WITH TWO SOFT MARKERS
• Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report
• Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect
• Unusual anatomical variants of infrahyoid muscles - case report
• Uterine fibroids and non-informative cell-free DNA screening results
• Utility of Targeted Sequencing Compared to FISH for Detection of Chronic Lymphocytic Leukemia Copy Number Alterations
• Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome