Chromosome 16p11.2 duplication syndrome
Chromosome 16p11.2 duplication syndrome
Definition
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
Also known as chromosome 16p11.2 duplication syndrome, proximal 16p11.2 microduplication syndrome, proximal dup(16)(p11.2), proximal trisomy 16p11.2 — per MONDO