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Partial duplication of chromosome 4

MONDO:0016924

Also known as: partial duplication of chromosome type 4, partial trisomy of chromosome 4

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

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Sub-types

4p16.3 microduplication syndrome (0) Chromosome 4Q32.1-q32.2 triplication syndrome (0) Distal trisomy 4q (0) Partial duplication of the long arm of chromosome 4 (0) Partial duplication of the short arm of chromosome 4 (0) Trisomy 4p (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 4 disorder (0) Disease by etiologic mechanism (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