partial duplication of the long arm of chromosome 15
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.
MONDO:0000762
syndrome caused by partial chromosomal duplication
is_a
15q duplication
related
15q trisomy
related
Duplication 15q
related
chromosome 15q duplication
related
partial duplication of chromosome 15q
exact
partial duplication of the long arm of chromosome type 15
exact
partial trisomy 15q
related
partial trisomy of chromosome 15q
exact
partial trisomy of the long arm of chromosome 15
exact
trisomy 15q
related