MCID: 17Q008
MIFTS: 6

17q12 Recurrent Duplication

Aliases & Classifications for 17q12 Recurrent Duplication

MalaCards integrated aliases for 17q12 Recurrent Duplication:

Name: 17q12 Recurrent Duplication 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance of the 17q12 recurrent duplication has not been established. although an estimated penetrance of approximately 21% has been proposed [rosenfeld et al 2013], the majority of 17q12 recurrent duplications are inherited from a parent who is often minimally affected or phenotypically normal, making the true penetrance difficult to ascertain.

Summaries for 17q12 Recurrent Duplication

Related Diseases for 17q12 Recurrent Duplication

Diseases related to 17q12 Recurrent Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 17q12 duplication syndrome 12.0
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 autism spectrum disorder 10.1

Symptoms & Phenotypes for 17q12 Recurrent Duplication

Drugs & Therapeutics for 17q12 Recurrent Duplication

Search Clinical Trials , NIH Clinical Center for 17q12 Recurrent Duplication

Genetic Tests for 17q12 Recurrent Duplication

Anatomical Context for 17q12 Recurrent Duplication

Publications for 17q12 Recurrent Duplication

Articles related to 17q12 Recurrent Duplication:

(show all 21)
# Title Authors PMID Year
1
Recurrent duplications of 17q12 associated with variable phenotypes. 24
26420380 2015
2
17q12 microduplications: a challenge for clinicians. 24
25691423 2015
3
Copy number variation in schizophrenia in Sweden. 24
24776740 2014
4
CNVs conferring risk of autism or schizophrenia affect cognition in controls. 24
24352232 2014
5
Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12. 24
24239950 2014
6
Duplications of 17q12 can cause familial fever-related epilepsy syndromes. 24
24049133 2013
7
Estimates of penetrance for recurrent pathogenic copy-number variations. 24
23258348 2013
8
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature. 24
23307502 2013
9
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. 24
23375656 2013
10
Complex autism spectrum disorder in a patient with a 17q12 microduplication. 24
22488896 2012
11
A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. 24
21540130 2011
12
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. 24
21055719 2010
13
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 24
19844256 2010
14
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. 24
19592680 2009
15
Population analysis of large copy number variants and hotspots of human genetic disease. 24
19166990 2009
16
Rare chromosomal deletions and duplications increase risk of schizophrenia. 24
18668038 2008
17
Private inherited microdeletion/microduplications: implications in clinical practice. 24
18657637 2008
18
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. 24
17924346 2007
19
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. 24
16906162 2006
20
Recent segmental duplications in the human genome. 24
12169732 2002
21
17q12 Recurrent Duplication 61
26925472 2016

Variations for 17q12 Recurrent Duplication

Expression for 17q12 Recurrent Duplication

Search GEO for disease gene expression data for 17q12 Recurrent Duplication.

Pathways for 17q12 Recurrent Duplication

GO Terms for 17q12 Recurrent Duplication

Sources for 17q12 Recurrent Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....