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Chromosome 3q29 microdeletion syndrome

MONDO:0012269

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

Also known as: 3q subtelomere deletion syndrome, 3q29 microdeletion syndrome, 3qter deletion, Del(3)(q29), chromosome 3q29 microdeletion syndrome, isolated cases, monosomy 3q29, monosomy 3qter, 3q29 deletion

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 deletion of chromosome 3 (0) Partial deletion of the long arm of chromosome 3 (0) Syndrome caused by partial chromosomal deletion (0)
Trials to join now! 1 Not yet finished but already full! 1 Completed 1
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  • Rare genetic syndromes under the microscope: what 800 participants could reveal

    Knowledge-focused Recruiting now

    This study aims to learn more about the medical and behavioral effects of two rare genetic conditions: 3q29 deletion and 3q29 duplication syndromes. Researchers will collect health and behavior data from 800 participants, including those with the syndromes and healthy siblings. T…

    Sponsor: Rutgers, The State University of New Jersey • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:36 UTC

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