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Partial segmental duplication

MONDO:0700130

A chromosomal disorder consisting of the partial duplication of chromosome 21.

Also known as: segmental duplication, partial trisomy 21

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

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Broader categories

Disease (618) Down syndrome (113) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 21 disorder (0) Disease by etiologic mechanism (0) Syndrome caused by partial chromosomal duplication (0)
Trials to join now! 1 Not yet finished but already full! 1 Completed 1
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  • New study aims to uncover Alzheimer's clues in down syndrome

    Knowledge-focused Recruiting now

    This study looks at how certain brain cells (cholinergic neurons) change with age in adults with Down syndrome, and how that relates to Alzheimer's disease risk. Researchers will use brain scans and EEGs to measure these changes in 30 adults aged 18-55 who do not have dementia. T…

    Phase: PHASE2 • Sponsor: Vanderbilt University Medical Center • Aim: Knowledge-focused

    Last updated Jun 27, 2026 14:01 UTC

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