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Partial duplication of the long arm of chromosome 14

MONDO:0016964

Also known as: partial duplication of chromosome 14q, partial duplication of the long arm of chromosome type 14, partial trisomy of chromosome 14q, partial trisomy of the long arm of chromosome 14, 14q duplication, 14q trisomy, Duplication 14q, chromosome 14q duplication

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

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Sub-types

14q11.2 microduplication syndrome (0) 14q32 duplication syndrome (0) Distal trisomy 14q (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) 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