Chromosome 17p duplication

Disease Overview

Chromosome 17p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 17. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 17p duplication include slowed growth both before and after birth; developmental delay; reduced muscle tone (hypotonia); congenital heart defects; and distinctive facial features.[10254][10255] Most cases are not inherited and occur randomly when the parents’ sperm or egg cells formed, or very shortly after the egg and sperm joined.[10255] In some cases, the duplication is inherited from a parent with a chromosome abnormality (who may or may not have symptoms of a chromosome abnormality). Whether or not the duplication was inherited from a parent, a person with the duplication can pass it on to his or her child. Treatment is based on the signs and symptoms present in each person.

Synonyms

• Duplication 17p
• Trisomy 17p
• 17p duplication
• 17p trisomy
• Partial trisomy 17p
• Dup(17p)