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Distal trisomy 18q

MONDO:0015741

Also known as: distal duplication 18q, distal trisomy type 18q, telomeric duplication 18q, trisomy 18qter

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

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Chromosome 18 disorder (1) Autosomal anomaly (0) Disease by etiologic mechanism (0) Partial trisomy of the long arm of chromosome 18 (0) Partial trisomy/tetrasomy of chromosome 18 (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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  • 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

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