Partial duplication of the long arm of chromosome 4

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.

Also known as: partial duplication of chromosome 4q, partial duplication of the long arm of chromosome type 4, partial trisomy of chromosome 4q, partial trisomy of the long arm of chromosome 4, 4q duplication, 4q trisomy, Duplication 4q, chromosome 4q duplication

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