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This pattern is meant to be used for chromosomal disorder which consists in the duplication of chromosomal region in which the chromosomal region is known. "Duplication" means an increase of copy number, and includes an extra copy (partial trisomy) and 2 extra copies (partial tetrasomy, also called triplication) of chromosomal region. Note that this pattern does not include the duplication of the entire chromosome (trisomy, tetrasomy, pentasomy).



{chromosomal_region} duplication syndrome


A chromosomal disorder consisting of the duplication of {chromosomal_region}.

Equivalent to

syndrome caused by partial chromosomal duplication and (disease arises from structure some {chromosomal_region})

Data preview

defined_class defined_class_label chromosomal_region chromosomal_region_label
MONDO:0017180 10q22.3q23.3 microduplication syndrome CHR:9606-chr10q22.3-q23.3 10q22.3-q23.3 (Human)
MONDO:0017580 11p15.4 microduplication syndrome CHR:9606-chr11p15.4 11p15.4 (Human)
MONDO:0016835 14q11.2 microduplication syndrome CHR:9606-chr14q11.2 14q11.2 (Human)
MONDO:0012081 15q11q13 microduplication syndrome CHR:9606-chr15q11-q13 15q11-q13 (Human)
MONDO:0016834 16p11.2p12.2 microduplication syndrome CHR:9606-chr16p11.2-p12.2 16p11.2-p12.2 (Human)

See full table here