MCID: 17Q011
MIFTS: 15

17q12 Duplication

Categories: Rare diseases

Aliases & Classifications for 17q12 Duplication

MalaCards integrated aliases for 17q12 Duplication:

Name: 17q12 Duplication 53 25
Chromosome 17q12 Duplication Syndrome 53 25 73
17q12 Microduplication Syndrome 53 25
Recurrent Duplication of 17q12 53 25
17q12 Microduplication 53 25
17q12 Recurrent Duplication 25
17q12 Duplication Syndrome 25
Trisomy 17q12 53
Dup(17)(q12) 53

Classifications:



External Ids:

UMLS 73 C3281137

Summaries for 17q12 Duplication

NIH Rare Diseases : 53 17q12 duplicationoccurs when a person has an extra copy of a portion of chromosome 17. Our genetic information is organized in structures called chromosomes. People with 17q12 duplication have an extra piece of genetic information from chromosome 17. Some people with this duplication do not have any signs or symptoms. Other people may have symptoms including intellectual disability, developmental delay, and behavioral challenges. Some people with 17q12 duplication may also have vision problems. Rarely, people with 17q12 duplication may also have other health problems, such as problems with the heart or kidneys. 17q12 duplication occurs when a portion of chromosome 17 is duplicated. When the duplication is inherited from a parent, it is inherited in an autosomal dominant manner. The duplication may be suspected if a doctor sees signs and symptoms such as developmental delay, behavioral problems, and intellectual disability. Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis. Treatment options may include physical, occupational, and speech therapies, as well as management by a psychiatrist or psychologist to assist with any behavioral challenges.

MalaCards based summary : 17q12 Duplication, also known as chromosome 17q12 duplication syndrome, is related to chromosome 17q12 duplication syndrome and 17q12 recurrent duplication. An important gene associated with 17q12 Duplication is DUP17Q12 (Chromosome 17q12 Duplication Syndrome). Affiliated tissues include testes, kidney and heart.

Genetics Home Reference : 25 17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.

Related Diseases for 17q12 Duplication

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

# Related Disease Score Top Affiliating Genes
1 chromosome 17q12 duplication syndrome 12.2
2 17q12 recurrent duplication 12.2
3 schizophrenia 9.9

Symptoms & Phenotypes for 17q12 Duplication

Drugs & Therapeutics for 17q12 Duplication

Search Clinical Trials , NIH Clinical Center for 17q12 Duplication

Genetic Tests for 17q12 Duplication

Anatomical Context for 17q12 Duplication

MalaCards organs/tissues related to 17q12 Duplication:

41
Testes, Kidney, Heart

Publications for 17q12 Duplication

Articles related to 17q12 Duplication:

# Title Authors Year
1
Treatment-Resistant Schizophrenia in a Patient With 17q12 Duplication. ( 26582588 )
2016
2
Recurrent duplications of 17q12 associated with variable phenotypes. ( 26420380 )
2015
3
Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies. ( 25510704 )
2014
4
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature. ( 23307502 )
2013

Variations for 17q12 Duplication

Expression for 17q12 Duplication

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

Pathways for 17q12 Duplication

GO Terms for 17q12 Duplication

Sources for 17q12 Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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