MCID: CHR502
MIFTS: 37

Chromosome 17q12 Duplication Syndrome

Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 17q12 Duplication Syndrome

MalaCards integrated aliases for Chromosome 17q12 Duplication Syndrome:

Name: Chromosome 17q12 Duplication Syndrome 57 12 20 43 29 13 6 15 70
17q12 Microduplication Syndrome 12 73 20 43 58
Trisomy 17q12 12 20 58
Recurrent Duplication of 17q12 20 43
17q12 Microduplication 20 43
17q12 Duplication 20 43
Dup(17)(q12) 20 58
17q12 Recurrent Duplication 43
17q12 Duplication Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
17q12 microduplication syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene duplication syndrome


HPO:

31
chromosome 17q12 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 17q12 Duplication Syndrome

MedlinePlus Genetics : 43 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.Signs and symptoms related to 17q12 duplications vary significantly, even among members of the same family. Some individuals with the duplication have no apparent signs or symptoms, or the features are very mild. Other individuals can have intellectual disability, delayed development, and a wide range of physical abnormalities.Intellectual and learning ability in people with 17q12 duplications ranges from normal to severely impaired. Many affected individuals have delayed development, particularly involving speech and language skills and gross motor skills such sitting, standing, and walking. Seizures are also common. Behavioral and psychiatric conditions that have been reported in people with 17q12 duplications include autism spectrum disorder (which affects social interaction and communication), schizophrenia, aggression, and self-injury. About half of affected individuals have an unusually small head (microcephaly).Less commonly, 17q12 duplications have been associated with abnormalities of the eyes, heart, kidneys, and brain. Some individuals with this chromosomal change have subtle differences in facial features, although these are not consistent.

MalaCards based summary : Chromosome 17q12 Duplication Syndrome, also known as 17q12 microduplication syndrome, is related to 17q12 recurrent duplication and microcephaly. An important gene associated with Chromosome 17q12 Duplication Syndrome is DUP17Q12 (Chromosome 17q12 Duplication Syndrome). Affiliated tissues include eye and tongue, and related phenotypes are cortical dysplasia and intellectual disability

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 17q12 region.

GARD : 20 17q12 duplication occurs 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.

Wikipedia : 73 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly... more...

More information from OMIM: 614526

Related Diseases for Chromosome 17q12 Duplication Syndrome

Graphical network of the top 20 diseases related to Chromosome 17q12 Duplication Syndrome:



Diseases related to Chromosome 17q12 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 17q12 Duplication Syndrome

Human phenotypes related to Chromosome 17q12 Duplication Syndrome:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cortical dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002539
2 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
3 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
4 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
5 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003468
6 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
7 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
8 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
9 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
10 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
11 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
12 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
13 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
14 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
15 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
16 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
17 smooth philtrum 31 occasional (7.5%) HP:0000319
18 broad thumb 31 occasional (7.5%) HP:0011304
19 micrognathia 31 occasional (7.5%) HP:0000347
20 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
21 brachydactyly 31 occasional (7.5%) HP:0001156
22 triangular face 31 occasional (7.5%) HP:0000325
23 esophageal atresia 31 occasional (7.5%) HP:0002032
24 peters anomaly 31 occasional (7.5%) HP:0000659
25 muscular hypotonia of the trunk 31 occasional (7.5%) HP:0008936
26 facial hypotonia 31 occasional (7.5%) HP:0000297
27 cleft soft palate 31 occasional (7.5%) HP:0000185
28 seizure 31 occasional (7.5%) HP:0001250
29 seizures 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
mental retardation
seizures (in some patients)
cortical dysplasia, focal (in some patients)
corpus callosum, thin (rare)
axial hypotonia (rare)

Head And Neck Eyes:
microphthalmia (rare)
glaucoma (rare)
deep-set eyes (rare)
downslanting palpebral fissures (rare)
peters anomaly (rare)

Head And Neck Head:
dolicocephaly (rare)

Head And Neck Ears:
large anteverted ears (rare)

Genitourinary Kidneys:
megacalicosis, unilateral (rare)

Skeletal Feet:
broad toes (rare)

Cardiovascular Heart:
atrial septal defect (rare)

Head And Neck Mouth:
cleft soft palate (rare)
rotational tongue movements (rare)

Head And Neck Face:
triangular face (rare)
hypotonic facies (rare)
smooth philtrum (rare)
micrognathia (rare)

Abdomen Gastrointestinal:
esophageal atresia (rare)

Skeletal Hands:
brachydactyly, mild (rare)
broad thumbs (rare)
short second fingers bilaterally (rare)
clinodactyly, fifth finger (rare)

Clinical features from OMIM®:

614526 (Updated 05-Apr-2021)

Drugs & Therapeutics for Chromosome 17q12 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17q12 Duplication Syndrome

Genetic Tests for Chromosome 17q12 Duplication Syndrome

Genetic tests related to Chromosome 17q12 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17q12 Duplication Syndrome 29

Anatomical Context for Chromosome 17q12 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 17q12 Duplication Syndrome:

40
Eye, Tongue

Publications for Chromosome 17q12 Duplication Syndrome

Articles related to Chromosome 17q12 Duplication Syndrome:

# Title Authors PMID Year
1
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
2
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies. 57
20621612 2010
3
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 57
19844256 2010
4
Private inherited microdeletion/microduplications: implications in clinical practice. 57
18657637 2008
5
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. 57
17924346 2007
6
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. 57
16906162 2006
7
[Value of chromosomal microarray analysis for fetuses with duodenal obstruction]. 61
33751526 2021
8
Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities. 61
31131025 2019

Variations for Chromosome 17q12 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 17q12 Duplication Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 15 genes GRCh37/hg19 17q12(chr17:34848678-36194230) copy number gain Pathogenic 625612 GRCh37: 17:34848678-36194230
GRCh38:
2 overlap with 15 genes GRCh37/hg19 17q12(chr17:34819191-36104803) copy number gain Pathogenic 625651 GRCh37: 17:34819191-36104803
GRCh38:
3 overlap with 15 genes GRCh37/hg19 17q12(chr17:34842059-36214026) copy number gain Pathogenic 625680 GRCh37: 17:34842059-36214026
GRCh38:
4 overlap with 22 genes GRCh37/hg19 17q12(chr17:34437475-36214026) copy number gain Pathogenic 625732 GRCh37: 17:34437475-36214026
GRCh38:

Expression for Chromosome 17q12 Duplication Syndrome

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

Pathways for Chromosome 17q12 Duplication Syndrome

GO Terms for Chromosome 17q12 Duplication Syndrome

Cellular components related to Chromosome 17q12 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 8.96 RSPH4A CCDC103
2 outer dynein arm GO:0036157 8.62 FAM187A CCDC103

Biological processes related to Chromosome 17q12 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.54 RSPH4A CCNO CCDC103
2 response to organic cyclic compound GO:0014070 9.43 HNF1B EDNRB
3 determination of left/right symmetry GO:0007368 9.4 DNAAF4 CCDC103
4 outer dynein arm assembly GO:0036158 9.32 DNAAF4 CCDC103
5 epithelial cilium movement GO:0003351 9.26 DNAAF4 CCDC103
6 axonemal dynein complex assembly GO:0070286 9.16 FAM187A CCDC103
7 inner dynein arm assembly GO:0036159 8.96 DNAAF4 CCDC103
8 cilium movement GO:0003341 8.8 RSPH4A DNAAF4 CCDC103

Sources for Chromosome 17q12 Duplication Syndrome

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
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