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 : 54 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 charcot-marie-tooth disease, demyelinating, type 1a. Affiliated tissues include heart, kidney and skeletal muscle, and related phenotypes are low-set ears and intellectual disability

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 charcot-marie-tooth disease, demyelinating, type 1a 10.1
3 tooth disease 10.1
4 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.9
5 sensory peripheral neuropathy 9.9
6 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:

60 33 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
7 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
8 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
9 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
10 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
11 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
12 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
13 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
14 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
15 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
16 flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0001371
17 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
18 polycystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000113
19 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
20 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
21 urethral stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0008661
22 urethral valve 60 33 frequent (33%) Frequent (79-30%) HP:0010481
23 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
24 wide nose 60 33 frequent (33%) Frequent (79-30%) HP:0000445
25 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
26 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
27 macroglossia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000158
28 coarse facial features 60 33 occasional (7.5%) Occasional (29-5%) HP:0000280
29 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
30 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
31 thick vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0012471
32 smooth philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000319
33 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
34 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
35 thick nasal alae 60 33 occasional (7.5%) Occasional (29-5%) HP:0009928
36 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
37 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
38 low posterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0002162
39 hypoplastic left heart 60 33 occasional (7.5%) Occasional (29-5%) HP:0004383
40 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
41 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
42 tapered finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0001182
43 talipes 60 33 occasional (7.5%) Occasional (29-5%) HP:0001883
44 prominent metopic ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005487
45 prominent nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0000448
46 aortic valve stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001650
47 high anterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0009890
48 broad eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0011229
49 growth delay 60 Frequent (79-30%)
50 oral cleft 60 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:

42
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

3 CDC
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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