/partial duplication of the long arm of chromosome 4

partial duplication of the long arm of chromosome 4

Rare Disease

MONDO:0016955

Also Known As

Duplication 4q syndrome, partialchromosome 4, partial trisomy 4qdistal 4q trisomydup(4q) syndrome, partialpartial duplication of chromosome 4qpartial duplication of the long arm of chromosome type 4partial trisomy 4q syndromepartial trisomy of chromosome 4qpartial trisomy of the long arm of chromosome 44q duplication4q trisomyDuplication 4qchromosome 4q duplicationpartial trisomy 4qpartial trisomy distal 4qtrisomy 4q

Definition

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.