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Partial deletion of the short arm of chromosome 5

MONDO:0016887

Also known as: partial deletion of chromosome 5p, partial deletion of the short arm of chromosome type 5, partial monosomy of chromosome 5p, partial monosomy of the short arm of chromosome 5

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

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Sub-types

Cri-du-chat syndrome (1)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 5 disorder (0) Disease by etiologic mechanism (0) Partial deletion of chromosome 5 (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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  • 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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