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Trisomy 21

A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells.
National Institutes of Health

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Chromosomes, Human, Pair 21Down SyndromeHistory of Trisomy 21:Finding:Point in time:^Patient:NarrativeMYELOPROLIFERATIVE SYNDROME, TRANSIENT

Papers overview

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2018
2018
In Utero Diagnoses of Strikingly Similar Presentations of Complete Atrioventricular Septal Defects in a Pair of Dizygotic Twins Concordant for Trisomy 21
Trisomy 21, or Down syndrome (DS), is a genetic disorder affecting approximately 1 in 500–750 live births. The prevalence of DS… 
2018
2018
First Trimester Non-invasive Prenatal Diagnosis of Chromosomal Abnormalities
  • 2018
  • Corpus ID: 54086856
The objective of the current study is to examine the potential value of using machine learning techniques such as artificial… 
Review
2018
Review
2018
Instrument-Dependent or Instrument-Independent Indications and Prevalence of Chromosomal Abnormalities by Amniocentesis in China: An Analysis of 4146 Cases of Amniocentesis
Objective: There is a high incidence of birth defects in China, and prenatal diagnosis is an important method of intervention… 
2014
2014
Diagnostic accuracy of the BACs‐on‐Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series
To evaluate the diagnostic performance of the BACs‐on‐Beads™ (BoBs™) assay for prenatal detection of chromosomal abnormalities. 
2014
2014
Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy
Congenital heart defects (CHD) occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart… 
2011
2011
Double Aneuploidy: A Case of Trisomy 21 with XYY
Although aneuploidies are common structural chromosomal abnormalities, double aneuploidies involving chromosomes 21 and Y are… 
2011
2011
Triple-X Syndrome in a Trisomic Down Syndrome Child: Both Aneuploidies Originated from the Mother
Abstract Here we report a case of double aneuploidy showing trisomy 21 and triple-X chromosome in a case of Down syndrome born to… 
2011
2011
Survival and morbidities among very low birth weight infants with chromosomal anomalies
Trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13) represent the most common autosomal trisomies detected in live-born… 
2009
2009
Telomere aggregates in trisomy 21 amniocytes.
2003
2003
Spontaneous evolution of essential thrombocythaemia into acute megakaryoblastic leukaemia with trisomy 8, trisomy 21 and cutaneous involvement
Abstract: Spontaneous transformation of essential thrombocythaemia (ET) into acute leukaemia is rare. We describe a case of ET… 
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