DUP
MCID: CHR209
MIFTS: 28

Chromosome 17p Duplication (DUP)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 17p Duplication

Summaries for Chromosome 17p Duplication

NIH Rare Diseases : 53 Chromosome 17p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 17. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 17p duplication include slowed growth both before and after birth; developmental delay; reduced muscle tone (hypotonia); congenital heart defects; and distinctive facial features. Most cases are not inherited and occur randomly when the parents´┐Ż?? sperm or egg cells formed, or very shortly after the egg and sperm joined. In some cases, the duplication is inherited from a parent with a chromosome abnormality (who may or may not have symptoms of a chromosome abnormality). Whether or not the duplication was inherited from a parent, a person with the duplication can pass it on to his or her child. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 17p Duplication, also known as trisomy 17p, is related to charcot-marie-tooth disease and tooth disease. Affiliated tissues include heart, kidney and skeletal muscle, and related phenotypes are malar flattening and hypertelorism

Related Diseases for Chromosome 17p Duplication

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

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 10.2
2 tooth disease 10.1
3 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.9
4 sensory peripheral neuropathy 9.9
5 neuropathy 9.9

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



Diseases related to Chromosome 17p Duplication

Symptoms & Phenotypes for Chromosome 17p Duplication

Human phenotypes related to Chromosome 17p Duplication:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
5 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
6 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
7 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
8 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
9 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
10 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
11 macroglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000158
12 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
13 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
14 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
15 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
16 thick vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0012471
17 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
18 smooth philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000319
19 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
20 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
21 flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001371
22 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
23 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
24 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
25 thick nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009928
26 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
27 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
28 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
29 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
30 low posterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0002162
31 hypoplastic left heart 59 32 occasional (7.5%) Occasional (29-5%) HP:0004383
32 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
33 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
34 polycystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000113
35 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
36 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
37 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
38 urethral stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0008661
39 urethral valve 59 32 frequent (33%) Frequent (79-30%) HP:0010481
40 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
41 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
42 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
43 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
44 prominent metopic ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005487
45 prominent nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000448
46 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
47 high anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0009890
48 broad eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0011229
49 growth delay 59 Frequent (79-30%)
50 oral cleft 59 Occasional (29-5%)

Drugs & Therapeutics for Chromosome 17p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 17p Duplication

Genetic Tests for Chromosome 17p Duplication

Anatomical Context for Chromosome 17p Duplication

MalaCards organs/tissues related to Chromosome 17p Duplication:

41
Heart, Kidney, Skeletal Muscle

Publications for Chromosome 17p Duplication

Articles related to Chromosome 17p Duplication:

# Title Authors Year
1
Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter. ( 24393711 )
2014
2
Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2). ( 16835929 )
2006
3
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p. ( 11043432 )
2000
4
Partial trisomy 17p detected by spectral karyotyping. ( 10422810 )
1999
5
Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker. ( 9842996 )
1998
6
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. ( 1461382 )
1992
7
Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature. ( 2178819 )
1990
8
Complete trisomy 17p a relatively new syndrome. ( 3066280 )
1988
9
Trisomy 17p due to A t(5;17) (p15;p11) pat translocation. ( 6984629 )
1982
10
Pure trisomy 17p in 60% cells. ( 535886 )
1979

Variations for Chromosome 17p Duplication

Expression for Chromosome 17p Duplication

Search GEO for disease gene expression data for Chromosome 17p Duplication.

Pathways for Chromosome 17p Duplication

GO Terms for Chromosome 17p Duplication

Sources for Chromosome 17p Duplication

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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