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Syndrome caused by partial chromosomal duplication

MONDO:0000762

A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.

Also known as: microduplication sydrome, chromosomal duplication syndrome

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

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Sub-types

Charcot-Marie-Tooth disease type 1A (12) 7q11.23 microduplication syndrome (3) 15q11q13 microduplication syndrome (2) Adult-onset autosomal dominant demyelinating leukodystrophy (2) Syndromic X-linked intellectual disability Lubs type (2) Chromosome 3q29 microduplication syndrome (1) Partial duplication of the long arm of chromosome 15 (1) Partial segmental duplication (1) Potocki-Lupski syndrome (1) Split hand-foot malformation 3 (1) Trisomy 17p (1) 10q22.3q23.3 microduplication syndrome (0) 11p15.4 microduplication syndrome (0) 14q11.2 microduplication syndrome (0) 14q32 duplication syndrome (0) 15q overgrowth syndrome (0) 16p11.2p12.2 microduplication syndrome (0) 16p12.1p12.3 triplication syndrome (0) 16p13.11 microduplication syndrome (0) 17q11.2 microduplication syndrome (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0)
Trials to join now! 14 Not yet recruiting 3 Not yet finished but already full! 2 Completed 5 Terminated 3
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