Cure My Disease

Don't miss your cure!

Log in / Sign up

Partial deletion of chromosome 12

MONDO:0017277

Also known as: partial deletion of chromosome type 12, partial monosomy of chromosome 12

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

Follow this condition — get notified about new trials

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) Non-distal monosomy 12q (0) Partial deletion of the long arm of chromosome 12 (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) Syndrome caused by partial chromosomal deletion (0)

Not yet finished but already full! 1 Completed 1

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