disease arises from structure disease arises from alteration in structure Xq (Human) syndrome caused by partial chromosomal duplication partial duplication of chromosome X partial duplication of the long arm of chromosome X https://github.com/monarch-initiative/mondo/issues/3492 Xq duplication UMLS:C0795891 chromosome Xq duplication partial duplication of the long arm of chromosome type X Duplication Xq partial duplication of chromosome Xq GARD:0005369 trisomy Xq Xq trisomy MONDO:0017010 partial trisomy Xq MESH:C536732 MEDGEN:162887 partial trisomy of the long arm of chromosome X partial trisomy of chromosome Xq Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person. Orphanet:263783