trisomy 21

Học thuật
Thân thiện
trisomy 21

A child with trisomy 21 smiles while playing with colorful building blocks.

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.
trisomy 21

A child with trisomy 21 smiles while playing with colorful building blocks.

Noun
  1. a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation

Từ đồng nghĩa

Từ gần giống