Search results
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity.
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder.
22 lip 2020 · As 16p11.2 deletion cannot be identified solely on the basis of clinical history, genetic testing should be a routine test in patients with neurodevelopmental disorders showing symptoms of speech and language delay, intellectual disability, or a diagnosis of ASD.
16p11.2 duplication syndrome is a genetic condition caused by duplication of region on chromosome 16. The odds of developing autism spectrum disorder are elevated and comparable to the rate with 16p11.2 deletion .
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability.
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. ORPHA:261197. Classification level: Disorder. Synonym (s): Proximal del (16) (p11.2)
Definition of a 16p11.2 Duplication. What Is a Copy Number Variant (CNV)? Inheritance. How Common Are 16p11.2 CNVs? Different Duplications, Different Groups. Common Features of 16p11.2 Duplication Syndrome. What Makes Something a “Syndrome”? Differences in Development. Thinking and Learning Skills (Cognition) Speech and Language. Motor Skills. 5. 6
