trisomy 21
Definition
Noun: - A genetic condition: Trisomy 21 is a congenital disorder caused by the presence of an extra copy of chromosome 21. This additional genetic material alters development and causes the characteristic features associated with the condition.
Usage
- Trisomy 21 is the primary genetic cause of the developmental profile commonly known as Down syndrome.
- The diagnosis of trisomy 21 is typically confirmed through genetic testing, such as a karyotype.
Examples
- Noun:
- Prenatal screening can assess the risk of a fetus having trisomy 21.
- The doctor explained that the child's developmental delays were due to trisomy 21.
Advanced Usage
- Medical Terminology: In clinical genetics, "trisomy 21" is the precise cytogenetic designation, whereas "Down syndrome" is the term for the associated medical and developmental profile.
- The geneticist's report confirmed a diagnosis of full, non-mosaic trisomy 21.
Variants and Related Words
- Down syndrome (n): The most widely recognized term for the condition resulting from trisomy 21, encompassing the characteristic physical features and cognitive profile.
- Trisomic (adj): Describing a cell or organism that has three copies of a particular chromosome instead of the usual two.
- The fetus was found to be trisomic for chromosome 21.
Synonyms
- Down's syndrome: An alternative term for the condition.
- Chromosome 21 trisomy: A less common, descriptive synonym.
Noun
-
a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation
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