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Mosaic trisomy 21

MONDO:0700127

Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Down syndrome (113) Human disease (14) Aneuploidy (12) Chromosomal disorder (12) Trisomy 21 (6) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 21 disorder (0) Disease by etiologic mechanism (0)

Trials to join now! 2 Not yet finished but already full! 1 Completed 1

10,000 genomes scoured for clues to rare brain diseases

Knowledge-focused ENROLLING_BY_INVITATION

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.

Sponsor: Karolinska Institutet • Aim: Knowledge-focused

Last updated Jun 26, 2026 13:56 UTC