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Partial duplication of chromosome 16

MONDO:0016934

Also known as: partial duplication of chromosome type 16, partial trisomy of chromosome 16

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

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Sub-types

16p11.2p12.2 microduplication syndrome (0) 16p12.1p12.3 triplication syndrome (0) 16p13.11 microduplication syndrome (0) Chromosome 16p11.2 duplication syndrome (0) Chromosome 16p13.3 duplication syndrome (0) Congenital cataracts-facial dysmorphism-neuropathy syndrome (0) Distal trisomy 16q (0) Partial duplication of the short arm of chromosome 16 (0) Partial trisomy of the long arm of chromosome 16 (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 16 disorder (0) Disease by etiologic mechanism (0) Syndrome caused by partial chromosomal duplication (0)
Not yet finished but already full! 1 Completed 1
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  • 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

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