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Partial trisomy/tetrasomy of chromosome 18

MONDO:0016936

A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.

Also known as: partial duplication/triplication of chromosome 18, partial trisomy/tetrasomy of chromosome type 18

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

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Sub-types

Distal trisomy 18q (0) Partial trisomy of the long arm of chromosome 18 (0) Partial trisomy/tetrasomy of the short arm of chromosome 18 (0) Tetrasomy 18p (0) Trisomy 18p (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Chromosome 18 disorder (1) Autosomal anomaly (0) Disease by etiologic mechanism (0) Syndrome caused by partial chromosomal duplication (0)
Trials to join now! 1 Not yet finished but already full! 1 Completed 1
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  • Massive study aims to unlock secrets of rare chromosome 18 disorders

    Knowledge-focused Recruiting now

    This study is gathering medical and educational information from up to 4,000 people with chromosome 18 abnormalities and their families. The goal is to better understand these rare conditions and provide better resources and care. Participants must be at least one year old and in…

    Sponsor: The University of Texas Health Science Center at San Antonio • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:08 UTC

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