trisomy 21


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Related to trisomy 21: trisomy 21 syndrome

trisomy 21

Down′

(or Down's′) syn′drome


n.
a genetic disorder associated with the presence of an extra chromosome 21, characterized by mental retardation, weak muscle tone, and epicanthic folds at the eyelids.
Formerly, mongolism. Also called trisomy 21.
[1960–65; after John Latin. H. Down (1828–96), British physician]
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.trisomy 21 - a congenital disorder caused by having an extra 21st chromosometrisomy 21 - a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
trisomy - chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
References in periodicals archive ?
"Advanced maternal age is a well-recognised factor that increases a woman's risk of having a child with chromosomal abnormalities, such as Trisomy 21. Trisomy 21, commonly known as Down syndrome, occurs due to the presence of an extra copy of chromosome 21," said Mulla.
He said there was also a need to run an awareness campaign for educating the people about trisomy 21.
In a message issued here on Wednesday, the Chief said that there is also a need to run an awareness campaign for educating the people about trisomy 21.
According to the World Health Organization (WHO), Down Syndrome also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
The positive predictive value in this cohort was 95.2% for trisomy 21, 93.5% for trisomy 18, 77.9% for trisomy 13, and 86.7% for monosomy X.
01 prior information notice (pin): The project is seeking to procure equipment and kit which will deliver an evaluative implementation of non-invasive prenatal testing (nipt) as a second line screen for the first and second trimester trisomy 21, 13 and 18 screening programme.
It is well established that trisomy 21 pregnancies are associated with increased maternal age, increased fetal Nuchal Translucency (NT) thickness, increased maternal serum free Beta Human Chorionic Gonadotropin (free BHCG) and decreased maternal serum Pregnancy Associated Plasma Protein- A (PAPP-A) (3).
Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
Now, the link between Down syndrome and Alzheimer's is being studied further, with new research recently shared by the Trisomy 21 Research Society.
Professional guidelines recommend cfDNA testing for trisomy 21, 18, and 13 for pregnant women at high risk for fetal aneuploidy; some guidelines support testing for all women.
Trisomy 21 is also a risk factor for a number of diseases, such as congenital heart disease, which is the most common disease that occurs in 40%-50% of patients with DS (2).
Trisomy 21 is the main cause of Down syndrome (DS) and it is associated with various other clinical phenotypes such as Alzheimer's disease, congenital heart diseases, cancers, Hirschsprung's disease, leukemias, epilepsy, sleep disorder, infertility-related issues, and a various nutrient deficiencies.