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Partial duplication of the short arm of chromosome 1

MONDO:0017012

Also known as: partial duplication of chromosome 1p, partial duplication of the short arm of chromosome type 1, partial trisomy of chromosome 1p

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

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Sub-types

Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant (0) Distal trisomy 1p36 (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 1 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 1 (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