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Chromosome inversion disorder

MONDO:0043678

Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.

Also known as: Inversions, chromosomal, Inversions, chromosome, chromosomal Inversions, chromosomal inversion, chromosome Inversions, inv, inversion, inversion, chromosomal

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

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Sub-types

Chromosome 16 inversion, 0.45-Mb (0) Chromosome 18 pericentric inversion (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (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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