Results 21 to 30 of about 55,941 (207)

Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Chih-Ping Chen, Shin-Wen Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Li-Feng Chen, Chen-Wen Pan, Yun-Yi Chen, Wayseen Wang   +11 more
doaj   +1 more source

Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report

Egyptian Journal of Medical Human Genetics, 2020
Background Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relatively high prevalence in the general
Mariya Tsvetkova, Mariya Levkova, Snezhinka Tsvetkova, Mari Hachmeriyan, Emil Kovachev, Lyudmila Angelova   +5 more
doaj   +1 more source

QRT-PCR evaluation of selected microRNAs’ expressions in the amniotic fluid and chorionic villus samples from Down syndrome pregnancies [PDF]

Research and Clinical Medicine, 2016
INTRODUCTION Trisomy 21, responsible for 95% of Down syndrome cases, is the most common viable aneuploidy. Prenatal diagnosis is based on genetic tests conducted on samples obtained by invasive procedures (1, 2, 3).
Vizitiu AC1, , Alexa A2, , Bejinar C2, , Anghel A2, , Stambouli D3, , Muresan C3,, Anastasiu D4, , Sirbu IO   +7 more
doaj  

Double Aneuploidy of Down Syndrome (Trisomy 21) and Jacobs Syndrome (Trisomy XYY) with Complete Tracheal Rings Deformity: Case Report and Literature Review

American Journal of Perinatology Reports, 2023
Down syndrome (DS, trisomy 21) with an extra copy of chromosome 21 is one of the most common aneuploidies in humans. Jacobs syndrome or XYY syndrome (trisomy XYY) with an extra copy of sex chromosome Y is a rare sex chromosome trisomy in males.
Omoloro Adeleke, Hussein Elmufti, Jie Zhang, Bhuvaneshwari Jagadesan, Mimily Harsono   +4 more
doaj   +1 more source

Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease

Life, 2022
Fetal congenital heart disease (CHD) is often associated with chromosomal abnormalities. Our primary aim was to assess stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of CHD, from a single ...
Stephanie Springer, Eva Karner, Christof Worda, Maria Magdalena Grabner, Elisabeth Seidl-Mlczoch, Franco Laccone, Jürgen Neesen, Anke Scharrer, Barbara Ulm   +8 more
doaj   +1 more source

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome. Case report: A 34-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Wen Pan, Wayseen Wang   +5 more
doaj   +1 more source

Isolated Aberrant Right Subclavian Artery and Trisomy 21 Case

Forbes Tıp Dergisi, 2021
Abnormal right subclavian artery (ARSA) is the most common anomaly of the aortic arch with a rate of 0.5-1.4%. Normally, three vessels arises from the aortic arch, while four vessels arise in ARSA.
İbrahim Ömeroğlu, Halil Gursoy Pala, Hakan Gölbaşı   +2 more
doaj   +1 more source

Molecular Glue Degraders Enhance CAPRIN1‐Dependent Lysosomal Degradation of APP and Reduce Amyloid β in Alzheimer's Disease

Advanced Science, EarlyView.
A new class of lysosome‐directed molecular glue degraders selectively enhance CAPRIN1–APP interactions, driving APP degradation and reducing amyloid‐β production in human neurons and Alzheimer's disease mouse models. This CAPRIN1‐dependent targeted protein degradation strategy reveals a previously unrecognized therapeutic approach for disrupting the ...
Sunghan Jung, Xu Wang, Bin Liu, Raktim Roy, Nancy Jaiswal, Ratan K. Rai, Yuichiro Takagi, Cen Gao, Lifan Zeng, Ho‐Yin Lo, Reagan K. Wohlford, Ryan K. Higgins, Bruce T. Lamb, Anantha Shekhar, Anita C. Bellail, Chunhai Hao   +15 more
wiley   +1 more source

How Is Pulmonary Hypertension Characterised and Treated in Children With Trisomy 21? Observations From the TOPP Registry (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension)

Pulmonary Circulation
Pulmonary hypertension is common in children with Trisomy 21, frequently with multifactorial aetiologies. Registry data provide better understanding of disease development, diagnostic workup and treatment patterns in children with Trisomy 21.
Tilman Humpl, Rolf M. F. Berger, Damien Bonnet, Maurice Beghetti, Dunbar Ivy, For the TOPP Investigators   +5 more
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source