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Partial deletion of chromosome 8

MONDO:0016873

Also known as: partial deletion of chromosome type 8, partial monosomy of chromosome 8

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

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Sub-types

Trichorhinophalangeal syndrome type II (1) 8p11.2 deletion syndrome (0) 8p23.1 microdeletion syndrome (0) 8q22.1 microdeletion syndrome (0) 8q24.3 microdeletion syndrome (0) Chromosome 8Q12.1-q21.2 deletion syndrome (0) Chromosome 8q21.11 deletion syndrome (0) Mesomelia-synostoses syndrome (0) Partial deletion of the long arm of chromosome 8 (0) Partial deletion of the short arm of chromosome 8 (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 8 disorder (0) Disease by etiologic mechanism (0) Syndrome caused by partial chromosomal deletion (0)
Not yet finished but already full! 1 Completed 2
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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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