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Partial duplication of the short arm of chromosome 11

MONDO:0016948

Also known as: partial duplication of chromosome 11p, partial duplication of the short arm of chromosome type 11, partial trisomy of chromosome 11p, partial trisomy of the short arm of chromosome 11

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

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Sub-types

11p15.4 microduplication syndrome (0) Beckwith-Wiedemann syndrome due to 11p15 microduplication (0) Silver-Russell syndrome due to 11p15 microduplication (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 11 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 11 (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