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Partial monosomy of the short arm of chromosome 20

MONDO:0016898

Also known as: Pure partial 20p deletion, partial deletion of chromosome 20p, partial deletion of the short arm of chromosome 20, partial monosomy of chromosome 20p, partial monosomy of the short arm of chromosome type 20, 20p deletion, 20p monosomy, chromosome 20p deletion

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

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Sub-types

20p12.3 microdeletion syndrome (0) 20p13 microdeletion syndrome (0) Alagille syndrome due to 20p12 microdeletion (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 20 disorder (0) Disease by etiologic mechanism (0) Partial deletion of chromosome 20 (0) Syndrome caused by partial chromosomal deletion (0)
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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