disease arises from structure disease arises from alteration in structure 4q (Human) syndrome caused by partial chromosomal duplication partial duplication of chromosome 4 partial duplication of the long arm of chromosome 4 https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/partial_duplication_of_the_long_arm_of_chromosome_4 https://www.malacards.org/card/partial_trisomy_distal_4q Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person. MEDGEN:162874 Orphanet:262860 trisomy 4q Duplication 4q partial duplication of chromosome 4q partial duplication of the long arm of chromosome type 4 MONDO:0016955 UMLS:C0795812 chromosome 4q duplication MESH:C537644 partial trisomy of chromosome 4q DOID:0111159 4q duplication icd11.foundation:959729903 partial trisomy 4q partial trisomy of the long arm of chromosome 4 4q trisomy