Non-Mosaic Down Syndrome - FOLIO Ontology

Identification

IRI:

https://folio.openlegalstandard.org/RCim0bnYhIyP6C7Vx0G3tmQ

Label Non-Mosaic Down Syndrome

Preferred Label N/A

Identifier N/A

Alternative Labels

Chromosome 21 Translocation Chromosome 21 Trisomy Non-Mosaic Trisomy 21

Definition

Non-mosaic Down syndrome is a genetic disorder where individuals have three copies of chromosome 21 in all their cells (chromosome 21 trisomy) or an extra copy of chromosome 21 attached to another chromosome (chromosome 21 translocation). This condition results in characteristic physical features, developmental delays, and intellectual disability.

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Additional Information

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