partial trisomy of the long arm of chromosome 5
Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. 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 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
MONDO:0016925
partial trisomy/tetrasomy of chromosome 5
is_a
5q duplication
related
5q trisomy
related
Duplication 5q
related
chromosome 5q duplication
related
partial duplication of chromosome 5q
exact
partial duplication of the long arm of chromosome 5
exact
partial trisomy 5q
related
partial trisomy of chromosome 5q
exact
partial trisomy of the long arm of chromosome type 5
exact
trisomy 5q
related