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Chromosome 3q29 microduplication syndrome

MONDO:0012761

3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.

Also known as: 3q29 microduplication syndrome, trisomy 3q29, chromosome 3q29 DUPLICATION syndrome, microduplication 3Q29 syndrome

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) Autosomal anomaly (0) Chromosome 3 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 3 (0) Partial duplication of the long arm of chromosome 3 (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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