partial duplication of the long arm of chromosome 15

Rare Disease

MONDO:0016965

Also Known As

partial duplication of chromosome 15qpartial duplication of the long arm of chromosome type 15partial trisomy of chromosome 15qpartial trisomy of the long arm of chromosome 1515q duplication15q trisomyDuplication 15qchromosome 15q duplicationpartial trisomy 15qtrisomy 15q

Definition

Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.