Chromosome 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders. The syndrome is caused by microdeletions in the 15q13.2q-13.3 region. This chromosomal region contains seven genes and is flanked by a breakpoint (BP) on each side. About 80% of patients with this syndrome have one or more neuropsychiatric diagnoses, including developmental disability/intellectual disability, autism spectrum disorder, speech problems, and attention deficit hyperactivity disorder (ADHD). The neuropsychiatric phenotypes of 15q13.3 microdeletion syndrome have been proposed to be caused by haploinsufficiency of CHRNA7, which is one of the seven genes.
Category
Chromosomal abnormality
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD44 Deletions of the autosomes
H01877 Chromosome 15q13.3 microdeletion syndrome
