chromosome 1q21.1 duplication syndrome
Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.
MONDO:0016952
partial duplication of the long arm of chromosome 1
is_a
1q21.1 microduplication syndrome
exact
1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)
exact
chromosome 1q21.1 duplication syndrome
exact
chromosome 1q21.1 duplication syndrome, isolated cases
exact
dup(1)(q21.1)
exact
trisomy 1q21.1
exact