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Chromosome 17q21.31 duplication syndrome

MONDO:0013298

The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.

Also known as: 17q21.31 microduplication syndrome, chromosome 17q21.31 duplication syndrome, dup(17)(q21.31), trisomy 17q21.31

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

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (7) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1) Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (1) Autosomal anomaly (0) Chromosome 17 disorder (0) Disease by developmental or physiological process (0)
Trials to join now! 2 Not yet finished but already full! 1 Completed 3
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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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