Chromosome 17q12 duplication syndrome
Chromosome 17q12 duplication syndrome
Definition
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
Also known as 17q12 microduplication syndrome, chromosome 17q12 duplication syndrome, dup(17)(q12), trisomy 17q12 — per MONDO