partial duplication of the short arm of chromosome 6
Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. 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 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.
MONDO:0016927
partial duplication of chromosome 6
is_a
6p duplication
related
6p trisomy
related
Duplication 6p
related
chromosome 6p duplication
related
partial duplication of chromosome 6p
exact
partial duplication of the short arm of chromosome type 6
exact
partial trisomy 6p
related
partial trisomy of chromosome 6p
exact
partial trisomy of the short arm of chromosome 6
exact
trisomy 6p
related