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16p11.2 Deletion Syndrome

Known as: Chromosome 16p11.2 Deletion Syndrome 
A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders.
National Institutes of Health

Related topics

Related topics

5 relations

Broader (5)

Autistic DisorderChromosome DeletionChromosomes, Human, Pair 16Congenital chromosomal disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children
Background Copy number variants (CNVs) are genetic rearrangements, such as deletions and duplications, which result in a… 
2020
2020
Male‐specific alterations in structure of isolation call sequences of mouse pups with 16p11.2 deletion
16p11.2 deletion is one of the most common gene copy variations that increases the susceptibility to autism and other… 
2018
2018
Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome
Microdeletion of the human 16p11.2 gene locus has been linked to autism spectrum disorder (ASD) and intellectual disability and… 
2017
2017
16p11.2 deletion syndrome mice perseverate with active coping response to acute stress – rescue by blocking 5‐HT2A receptors
In humans a chromosomal hemideletion of the 16p11.2 region results in variable neurodevelopmental deficits including… 
Highly Cited
2015
Highly Cited
2015
16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks
Chromosomal 16p11.2 deletion syndrome frequently presents with intellectual disabilities, speech delays, and autism. Here we… 
2015
2015
In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages
Review
2015
Review
2015
Developmental Presentation, Medical Complexities, and Service Delivery for a Child With 16p11.2 Deletion Syndrome
Purpose: To discuss the developmental presentation, complicating factors, and delivery of physical therapy services through the… 
Highly Cited
2014
Highly Cited
2014
Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.
2013
2013
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3
With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with… 
2013
2013
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy
Rare copy number variants (CNVs) have been established as an important cause of various neurodevelopmental disorders, including… 
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