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Partial trisomy/tetrasomy of the short arm of chromosome 12

MONDO:0016933

Also known as: partial duplication/triplication of chromosome 12p, partial duplication/triplication of the short arm of chromosome 12, partial trisomy/tetrasomy of chromosome 12p, partial trisomy/tetrasomy of the short arm of chromosome type 12

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

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Sub-types

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) Chromosome 12 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 12 (0) Syndrome caused by partial chromosomal duplication (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