21,929 results match your criteria trisomy

Trisomy 21 results in modest impacts on mitochondrial function and central carbon metabolism.

Free Radic Biol Med 2021 Jun 12;172:201-212. Epub 2021 Jun 12.

Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, USA; Linda Crnic Institute for Down Syndrome, School of Medicine, University of Colorado, Aurora, CO, USA. Electronic address:

Down syndrome (DS) is the most common genetic cause of intellectual disability. Mechanistically, oxidative stress and mitochondrial dysfunction are reported to be etiological factors for many of the DS-related comorbidities and have previously been reported in a number of in vitro and in vivo models of DS. The purpose of this study was to test for the presence of mitochondrial dysfunction in fibroblast cells obtained via skin biopsy from individuals with DS, and to assess the impact of trisomy 21 on central carbon metabolism. Read More

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Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases.

Mol Cytogenet 2021 Jun 14;14(1):31. Epub 2021 Jun 14.

Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China.

Objective: To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy, copy number variation (CNV), and to provide further data for clinical application of NIPT.

Materials And Methods: 25,517 pregnant women who underwent NIPT testing in Anhui Province Maternity and Child Health Hospital from September 2019 to September 2020 were selected, and samples with high-risk test results were subjected to karyotype analysis for comparison by using amniotic fluid, with some samples subjected to further validation by chromosomal microarray analysis, and followed up for pregnancy outcome.

Results: A total of 25,517 pregnant women who received NIPT, 25,502 cases were tested successfully, and 294 high-risk samples (1. Read More

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Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report.

Mol Cytogenet 2021 Jun 14;14(1):30. Epub 2021 Jun 14.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Background: Fetoplacental discrepancies occur in approximately 1-2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells. Confined placental mosaicism usually involves aneuploidies and more sparsely structural chromosomal aberrations. Read More

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Dysregulated KRAS gene-signaling axis and abnormal chromatin remodeling drive therapeutic resistance in heterogeneous-sized circulating tumor cells in gastric cancer patients.

Cancer Lett 2021 Jun 11;517:78-87. Epub 2021 Jun 11.

Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China. Electronic address:

The mechanism by which heterogeneous-sized circulating tumor cells (CTCs) in gastric cancer (GC) patients are resistant to the targeted therapy and/or chemotherapy remains unclear. This study investigated prognostic value and genomic variations of size-heterogenous CTCs, in an attempt to unravel the molecular mechanisms underlying the therapeutic resistance, which is relevant to poor prognosis in GC. Aneuploid CTCs, detected in 111 advanced GC patients, were categorized into small (≤white blood cell [WBC], 25. Read More

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Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations.

J Ophthalmol 2021 26;2021:8870680. Epub 2021 May 26.

Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

Purpose: To summarize and review the common ophthalmic anomalies in children with trisomy 21 (Down syndrome) in order to propose an update to current clinical recommendations.

Methods: A retrospective chart review, systemic literature review, and international survey of the frequency of ocular abnormalities, screening schedules, and challenging aspects examining children with trisomy 21. The chart review included patients treated at the Department of Ophthalmology at the University Hospital of Zurich over a two-year period. Read More

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A Critical Review of Spatial Abilities in Down and Williams Syndromes: Not All Space Is Created Equal.

Front Psychiatry 2021 28;12:669320. Epub 2021 May 28.

Institute of Psychology, University of Lausanne, Lausanne, Switzerland.

Down syndrome (DS, Trisomy 21) and Williams syndrome (WS) are two neurodevelopmental disorders of genetic origin that are accompanied by mild to moderate intellectual disability but exhibit distinct cognitive profiles. In this review we discuss our recent work characterizing the real-world spatial learning and memory abilities of adult individuals with DS and WS. We used several different paradigms in which participants locomote freely and have access to coherent input from all sensory modalities to investigate their fundamental egocentric (body-centered or viewpoint-dependent) and allocentric (world-centered or viewpoint-independent) spatial abilities. Read More

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Hirschsprung disease with Edward syndrome: A rare association: A case report.

Int J Surg Case Rep 2021 Jun 9;84:106084. Epub 2021 Jun 9.

Department of GI and General Surgery, Tribhuvan University Teaching Hospital, Institute of Medicine, Kathmandu, Nepal. Electronic address:

Introduction And Importance: Edward's syndrome (ES) occurs as a result of trisomy of chromosome 18 and is associated with multisystem congenital anomalies. The association of ES with various gastrointestinal malformations but Hirschsprung disease (HD) is well documented.

Case Presentation: A female infant on her 5th day of life presented with episodes of bilious vomiting along with abdominal distension and no passage of stool. Read More

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Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.

Clin Dysmorphol 2021 Jun 14. Epub 2021 Jun 14.

Department of Clinical Genetics, MVZ Martinsried, Munich Ambulance for Clinical Genetics, Praxis Dr. Wahl, Praxis für Humangenetik Department of Neuropediatrics,I. Klinik für Kinder und Jugendliche, Universitätsklinikum Augsburg, Augsburg Department for Imprinting Disorders, Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

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Post-operative course of pulmonary artery pressure after complete atrioventricular canal defect repair.

Cardiol Young 2021 Jun 11:1-7. Epub 2021 Jun 11.

Division of Pediatric Cardiology, University of Maryland School of Medicine, Baltimore, MD, USA.

Complete atrioventricular canal defect is a CHD associated with intra-cardiac shunting of blood, which can lead to irreversible changes in pulmonary vascular resistance and pulmonary artery hypertension if unrepaired. Patients with Trisomy 21 are at risk for early development of pulmonary artery hypertension if left uncorrected.1,2. Read More

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Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs).

J Perinatol 2021 Jun 10. Epub 2021 Jun 10.

Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

Objectives: To examine characteristics and outcomes of T18 and T13 infants receiving intensive surgical and medical treatment compared to those receiving non-intensive treatment in NICUs.

Study Design: Retrospective cohort of infants in the Children's Hospitals National Consortium (CHNC) from 2010 to 2016 categorized into three groups by treatment received: surgical, intensive medical, or non-intensive.

Results: Among 467 infants admitted, 62% received intensive medical treatment; 27% received surgical treatment. Read More

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Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication.

Cytogenet Genome Res 2021 Jun 9:1-7. Epub 2021 Jun 9.

SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.

Pure partial duplications of the long arm of chromosome 16 are rare and few cases are described with delineation by chromosomal microarray. Data about clinical abnormalities of pure partial 16q duplications are incomplete because many individuals die during the perinatal period. We describe the clinical features of a 47-month-old Brazilian girl with 16q21q24. Read More

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[Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2].

Andes Pediatr 2021 Apr;92(2):309-315

Hospital Regional de Concepción, Chile.

In the framework of the vaccination campaign against the SARS-CoV-2 virus, the Chilean Ministry of Health requested advice from the Genetics Branch of the Chilean Society of Pediatrics, to define the level of prioritization for people with Down Syndrome . A panel of geneticists worked on the development of this consensus, in which not only patients with Down syndrome were included, but the search was extended to patients with other types of disabilities, in both pediatric and adult ages in or der to contribute to the development of public health measures against the COVID-19 pandemic. The consensus concludes that, given the prevalence of comorbidities associated with Down syndrome, the higher incidence of cases with severe COVID-19 in this population group and a higher mortality, individuals with trisomy 21 should be considered as a high-risk population, and therefore, vaccina tion against SARS-CoV-2 should have a high priority for all people with Down syndrome regardless of their age (except for the age limit established by the clinical trials of each vaccine), and should be preceded only by the groups of health personnel and adults aged > 60-65 years. Read More

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The Impact of Sex Chromosome Trisomies (XXX, XXY, XYY) on Early Social Cognition: Social Orienting, Joint Attention, and Theory of Mind.

Arch Clin Neuropsychol 2021 Jun 9. Epub 2021 Jun 9.

Department of Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands.

Objective: About 1:650-1,000 children are born with an extra X or Y chromosome (XXX; XXY; XYY), which results in a sex chromosome trisomy (SCT). This study aims to cross-sectionally investigate the impact of SCT on early social cognitive skills. Basic orienting toward social cues, joint attention, and theory of mind (ToM) in young children with SCT were evaluated. Read More

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[Cytogenetic analysis of an amniotic sample with X chromosome abnormality signaled by non-invasive prenatal testing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Jun;38(6):573-576

Taizhou Hospital of Zhejiang Province, Taizhou, Zhejiang 317000, China.

Objective: To determine the chromosomal karyotype of a fetus with copy number variation (CNV) of the X chromosome signaled by non-invasive prenatal testing (NIPT).

Methods: NIPT was performed on the peripheral blood sample taken from the pregnant women. Amniotic fluid and cord blood samples were subjected to conventional G banded karyotyping, and were further analyzed by high-throughput sequencing for chromosome microdeletion/microduplication. Read More

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[Value of chromosomal microarray analysis for the prenatal diagnosis of pregnancy with high risk signaled by non-invasive prenatal testing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Jun;38(6):541-544

Department of Genetics and Birth Health, Changsha Maternal and Child Health Care Hospital, Changsha, Hunan 410007, China.

Objective: To explore the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with high risk signaled by non-invasive prenatal testing (NIPT).

Methods: From June 2017 to August 2019, 628 pregnant women with high risk signaled by NIPT underwent invasive prenatal diagnosis. Amniotic fluid or cord blood samples were subjected to chromosomal karyotyping analysis or CMA. Read More

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Longitudinal assessment of cardiac function in infants with Down's syndrome using novel echocardiography techniques - project protocol.

HRB Open Res 2020 21;3:77. Epub 2020 Oct 21.

Department of Neonatology, The Rotunda Hospital, Dublin, Dublin, D01P5W9, Ireland.

Down's syndrome (DS) is the most common chromosomal abnormality globally. Ireland has one of the highest rates of DS in the western world with an incidence of 1:444 live births. Congenital heart disease (CHD) and pulmonary hypertension (PH) are the commonest morbidities affecting the cardiovascular system in DS. Read More

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October 2020

Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis.

Wellcome Open Res 2018 1;3:85. Epub 2021 Jun 1.

Department of Experimental Psychology, University of Oxford, Oxford, OX2 6GG, UK.

: The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. The 'double hit' hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. We predicted that the impact of an additional sex chromosome on neurodevelopment would depend on common autosomal variants involved in synaptic functions. Read More

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Elevated soluble amyloid beta protofibrils in Down syndrome and Alzheimer's disease.

Mol Cell Neurosci 2021 Jun 4;114:103641. Epub 2021 Jun 4.

BioArctic AB, Warfvinges väg 35, SE-112 51 Stockholm, Sweden; Dept. of Public Health/Geriatrics, Uppsala University, SE-751 22 Uppsala, Sweden.

Down syndrome (DS) is caused by trisomy of chromosome 21, which leads to a propensity to develop amyloid β (Aβ) brain pathology in early adulthood followed later by cognitive and behavioral deterioration. Characterization of the Aβ pathology is important to better understand the clinical deterioration of DS individuals and to identify interventive strategies. Brain samples from people with DS and Alzheimer's disease (AD), as well as non-demented controls (NDC), were analyzed with respect to different Aβ species. Read More

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Successful resuscitation from SARS-CoV-2 infection in a child after Rastelli operation.

Pediatr Int 2021 Jun 5;63(6):730-732. Epub 2021 Jun 5.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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Evaluation of a prenatal screening decision aid: A mixed methods pilot study.

Patient Educ Couns 2021 May 18. Epub 2021 May 18.

Canada Research Chair in Shared Decision Making and Knowledge Translation, Laval University, Quebec, QC, Canada; Centre de recherche en santé durable (VITAM), Quebec, QC, Canada; Centre intégré universitaire de santé et services sociaux de la Capitale-Nationale (CIUSSS-CN), Quebec, QC, Canada; Department of Family Medicine and Emergency Medicine, Faculty of Medicine, Université Laval, Quebec, QC, Canada. Electronic address:

Background: We developed a decision aid (DA) to help pregnant women and their partners make informed decisions about prenatal screening for trisomy. We aimed to determine its usefulness for preparing for decision-making and its acceptability among end-users.

Methods: In this mixed-methods pilot study, we recruited participants in three prenatal care settings in Quebec City. Read More

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Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia.

Clin Case Rep 2021 May 25;9(5):e04264. Epub 2021 May 25.

Department of Pediatrics SSMC Hospital Abu Dhabi United Arab Emirates.

Our findings expand the known clinical features of trisomy 13 by including ectrodactyly as a possible Trisomy 13-associated limb malformation. We highlight the importance of performing antenatal genetic test to establish more specific treatment plan. Read More

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Premature Ovarian Failure Related to Trisomy X: Two Case Reports with an Aberrant 47, XXX Karyotype.

J Hum Reprod Sci 2021 Jan-Mar;14(1):87-90. Epub 2021 Mar 30.

Department of ARTC, Command Hospital (SC), Pune, Maharashtra, India.

Trisomy X syndrome is a sex chromosome aneuploidy with a variable clinical presentation at different stages of life. We present two asyndromic females with primary infertility and features of premature ovarian failure (POF). The first case was a nonmosaic trisomy X with poor ovarian reserve on pelvic ultrasound and elevated gonadotropins, while the second case was a mosaic trisomy X who had partly preserved ovarian reserve with normal gonadotropins. Read More

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Should isolated aberrant right subclavian artery be ignored in the antenatal period? A management dilemma

Turk J Obstet Gynecol 2021 06;18(2):103-108

Biruni University Faculty of Medicine, Department of Perinatology, İstanbul, Turkey

Objective: To investigate the frequency and types of chromosomal abnormalities in fetuses with the aberrant right subclavian artery (ARSA) and to evaluate its association with other ultrasonographic findings.

Materials And Methods: In all, 11,666 fetal anatomic surveys were performed between March 2014 and March 2020. The cases diagnosed as ARSA were examined. Read More

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Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative Registry.

JMIR Res Protoc 2021 Jun 3;10(6):e24901. Epub 2021 Jun 3.

Department of Pediatrics, Aga Khan University Hospital, Karachi, Pakistan.

Background: Down syndrome is the most common chromosomal disorder, with a global incidence of 1 in 700 live births. However, the true prevalence, associated morbidities, and health-related quality of life (HRQOL) of these individuals and their families are not well documented, especially in low- and middle-income countries such as Pakistan. Disease-specific documentation in the form of a collaborative registry is required to better understand this condition and the associated health outcomes. Read More

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Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies.

Clin Chem 2021 Jun 2. Epub 2021 Jun 2.

Departments of Bioinformatics, Biostatistics, Development, Medical Affairs, and Clinical Affairs, Illumina, Inc., San Diego, CA, USA.

Background: Noninvasive prenatal tests (NIPTs) detect fetal chromosomal anomalies with high clinical sensitivity and specificity. We examined the performance of a paired-end sequencing-based NIPT in the detection of genome-wide fetal chromosomal anomalies including common trisomies, sex chromosomal aneuploidies (SCA), rare autosomal aneuploidies (RAAs), and partial deletions/duplications ≥7 Mb.

Methods: Frozen plasma samples from pregnant women were tested using the VeriSeq NIPT Solution v2 assay. Read More

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Virtual Interprofessional Learning Due to COVID-19.

J Nurs Educ 2021 Jun 1;60(6):346-351. Epub 2021 Jun 1.

Background: The COVID-19 pandemic necessitated sweeping changes in a neonatal nurse practitioner (NNP) program's approach to distance-accessible learning. Prioritizing student learning and safety, we developed a new alternative model for individualized simulation.

Method: The scenario created for a student to deliver an unexpected diagnosis of trisomy 21, or Down syndrome, to a postpartum mother was redesigned to take place using web-conference technology. Read More

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Physical activity among children with down syndrome: maternal perception.

Int J Qual Stud Health Well-being 2021 Dec;16(1):1932701

Faculty of Nursing, Umm AlQura University, Al-Qura, Saudi Arabia.

: Studies have shown that children with Down syndrome (DS) are at high risk for physical inactivity and obesity. This study aimed to explore mother's perceptions of the physical activity levels, needs, benefits, facilitators, and barriers in their children with DS.: For this descriptive qualitative study, 17 participants were recruited through centres for children with DS in the Kingdom of Saudi Arabia. Read More

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December 2021

Twists and Turns from 'Tumor in Tumor' Profiling: Surveillance of CLL leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis.

Cold Spring Harb Mol Case Stud 2021 Jun 1. Epub 2021 Jun 1.

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, 02115, United States;

Comprehensive characterization of somatic genomic alterations has led to fundamental shifts in our understanding of tumor biology. In clinical practice, these studies can lead to modifications of diagnosis and/or specific treatment implications, fulfilling the promise of personalized medicine. Herein, we describe a 78-year old woman under surveillance for long-standing untreated chronic lymphocytic leukemia (CLL). Read More

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Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Genes (Basel) 2021 May 26;12(6). Epub 2021 May 26.

Department of Medical Genetics "Saint Mary" Emergency Children's Hospital, St. Vasile Lupu No 62, 700309 Iasi, Romania.

Pallister-Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet been cited, and analyze the differences between entities. Moreover, we present alternative methods of diagnosis that could be easily used in daily practice. Read More

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Prenatal Screening of Trisomy 21: Could Oxidative Stress Markers Play a Role?

J Clin Med 2021 May 28;10(11). Epub 2021 May 28.

Department of Gynecological Endocrinology and Adolescent Gynecology, Medical University of Bialystok, 15-276 Bialystok, Poland.

Despite significant progress in trisomy 21 (T21) diagnostic tools, amniocentesis is still used for the confirmation of an abnormal fetal karyotype. Invasive tests carry the potential risk of miscarriage; thus, screening biomarkers are commonly used before undergoing invasive procedures. In our study, we investigated the possible application of oxidative stress markers in the prenatal screening of trisomy 21. Read More

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