MCID: 16P008
MIFTS: 16

16p11.2 Duplication

Categories: Mental diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for 16p11.2 Duplication

MalaCards integrated aliases for 16p11.2 Duplication:

Name: 16p11.2 Duplication 20 43
16p11.2 Duplication Syndrome 20 43
16p11.2 Microduplication 20 43
Auts14b 20 43
Autism, Susceptibility to, 14b 43
Susceptibility to Autism, 14b 20

Classifications:



Summaries for 16p11.2 Duplication

MedlinePlus Genetics : 43 16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities.Developmental delay and intellectual disability can occur in people with a 16p11.2 duplication. Approximately one-third of children with this condition have delays in developing physical skills such as sitting, crawling, or walking. The average IQ of affected individuals is about 26 points lower than that of their parents without the duplication. About 80 percent of people with a 16p11.2 duplication have problems related to speech or language. Both expressive language skills (vocabulary and the production of speech) and receptive language skills (the ability to understand speech) can be affected.One of the most common behavioral problems associated with this chromosomal change is attention-deficit/hyperactivity disorder (ADHD). Autism spectrum disorder, which affect communication and social skills, is diagnosed in about one in five people with a 16p11.2 duplication. Affected individuals also have an increased risk of mental health problems, including schizophrenia, anxiety, and depression. Recurrent seizures are possible in this condition, although they do not occur in most affected individuals.Other abnormalities that can occur with a 16p11.2 duplication include malformations of the kidneys and urinary tract. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 duplications; signs and symptoms related to the chromosomal change vary even among affected members of the same family.

MalaCards based summary : 16p11.2 Duplication, also known as 16p11.2 duplication syndrome, is related to chromosome 16p11.2 duplication syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with 16p11.2 Duplication is DUP16P11.2 (Chromosome 16p11.2 Duplication Syndrome). Affiliated tissues include amygdala.

GARD : 20 16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms while others may have features such as low weight; small head size; behavioral problems; features of autism spectrum disorder ; developmental delay ; intellectual disability ; and speech and language delays. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on signs and symptoms present in each individual.

Related Diseases for 16p11.2 Duplication

Graphical network of the top 20 diseases related to 16p11.2 Duplication:



Diseases related to 16p11.2 Duplication

Symptoms & Phenotypes for 16p11.2 Duplication

Drugs & Therapeutics for 16p11.2 Duplication

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight Recruiting NCT01238250

Search NIH Clinical Center for 16p11.2 Duplication

Genetic Tests for 16p11.2 Duplication

Anatomical Context for 16p11.2 Duplication

MalaCards organs/tissues related to 16p11.2 Duplication:

40
Amygdala

Publications for 16p11.2 Duplication

Articles related to 16p11.2 Duplication:

(show all 32)
# Title Authors PMID Year
1
16p11.2 Duplication Syndrome - a Case Report. 61
33650406 2021
2
A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants. 61
33384013 2021
3
BDNF and JNK Signaling Modulate Cortical Interneuron and Perineuronal Net Development: Implications for Schizophrenia-Linked 16p11.2 Duplication Syndrome. 61
33067994 2020
4
Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication. 61
32033921 2020
5
Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series. 61
33086486 2020
6
16p11 Duplication Disrupts Hippocampal-Orbitofrontal-Amygdala Connectivity, Revealing a Neural Circuit Endophenotype for Schizophrenia. 61
32320645 2020
7
Psychotic symptoms in 16p11.2 copy-number variant carriers. 61
31724820 2020
8
Reversal of synaptic and behavioral deficits in a 16p11.2 duplication mouse model via restoration of the GABA synapse regulator Npas4. 61
32099100 2020
9
Association of Rare Copy Number Variants With Risk of Depression. 61
30994872 2019
10
Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome. 61
30617906 2019
11
[Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication]. 61
31243752 2019
12
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 61
30559488 2019
13
Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome. 61
28591836 2018
14
Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature. 61
29410544 2018
15
Microarray analysis in pregnancies with isolated echogenic bowel. 61
29522884 2018
16
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. 61
28965845 2017
17
A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population. 61
28096781 2017
18
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. 61
27410714 2016
19
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. 61
27832746 2016
20
Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. 61
27219475 2016
21
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. 61
27207092 2016
22
Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub. 61
27402753 2016
23
Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. 61
25678630 2016
24
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. 61
26629640 2016
25
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach. 61
27579173 2016
26
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. 61
26215737 2015
27
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. 61
25937446 2015
28
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. 61
24939913 2014
29
The genetic landscape of infantile spasms. 61
24781210 2014
30
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. 61
24372385 2014
31
A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. 61
25379732 2014
32
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. 61
22596160 2012

Variations for 16p11.2 Duplication

Expression for 16p11.2 Duplication

Search GEO for disease gene expression data for 16p11.2 Duplication.

Pathways for 16p11.2 Duplication

GO Terms for 16p11.2 Duplication

Sources for 16p11.2 Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....