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Chromosome 12 disorder

MONDO:0700019

Chromosomal disorder in which chromosome 12 is affected.

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

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Sub-types

12p12.1 microdeletion syndrome (0) 12q14 microdeletion syndrome (0) 12q15q21.1 microdeletion syndrome (0) Chromosome 12p deletion (0) Distal monosomy 12p (0) Distal monosomy 12q (0) Mosaic trisomy 12 (0) Non-distal monosomy 12q (0) Partial deletion of chromosome 12 (0) Partial deletion of the long arm of chromosome 12 (0) Partial duplication of chromosome 12 (0) Partial duplication of the long arm of chromosome 12 (0) Partial trisomy/tetrasomy of the short arm of chromosome 12 (0) Ring chromosome 12 (0) Tetrasomy 12p (0) Trisomy 12p (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Disease by etiologic mechanism (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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