Search results
22 wrz 2009 · The 16p11.2 recurrent deletion is one of the most common known genetic causes of neurodevelopmental disorders [Männik et al 2015, Chung et al 2021]. Common clinical features include motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features.
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.
Research shows that 16p11.2 deletion syndrome is often the result of a de novo variant in 16p11.2. Many parents who have had their genes tested do not have the 16p11.2 genetic variant found in their child who has the syndrome.
The 16p11.2 deletion has been repeatedly associated with ASD, and accounts for approximately 1% of ASD cases (Weiss et al., 2008; Kumar et al., 2008; Fernandez et al., 2010). Moreover, ASD has been shown to be the second most prevalent diagnosis in 16p11.2 deletion carriers (Niarchou et al., 2019). In this study, two patients had a clinical ...
Syndromes hidden within the 16p11.2 deletion region. 16p11.2 is a region of chromosome 16 particularly prone to deletions and duplications. Copy number variations (CNVs) are defined as specific regions within a chromosome that are either deleted or duplicated.
Disease Overview. 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, ...
you learn important information about people with a 16p11.2 duplication syndrome. Inside, you will find a review of everything from basic genetics and features of 16p11.2 duplication syndrome to clinical care and management considerations. – Simons Searchlight
