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Chromosome 12p deletion

MONDO:0022174

A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.

Also known as: partial deletion of chromosome 12p, partial deletion of the short arm of chromosome 12, partial deletion of the short arm of chromosome type 12, partial monosomy of chromosome 12p, partial monosomy of the short arm of chromosome 12, 12p del, 12p deletion, 12p monosomy

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

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Sub-types

12p12.1 microdeletion syndrome (0) Distal monosomy 12p (0)

Broader categories

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