MCID: CHR248
MIFTS: 24

Chromosome 4p Duplication

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 4p Duplication

MalaCards integrated aliases for Chromosome 4p Duplication:

Name: Chromosome 4p Duplication 54
Duplication 4p 54 60
Trisomy 4p 54 60
Duplication of the Short Arm of Chromosome 4 60
Trisomy of the Short Arm of Chromosome 4 60
Chromosome 4, Trisomy 4p 74
Partial Trisomy 4p 54
4p Duplication 54
4p Trisomy 54

Classifications:



External Ids:

MESH via Orphanet 46 C537643
ICD10 via Orphanet 35 Q92.2
UMLS via Orphanet 75 C2931570 C2931571
Orphanet 60 ORPHA1738
UMLS 74 C2931571

Summaries for Chromosome 4p Duplication

NIH Rare Diseases : 54 Chromosome 4p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 4. 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 4p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Although some cases occur sporadically, most are inherited from a parent who has a balanced translocation. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 4p Duplication, also known as duplication 4p, is related to 4p16.3 microduplication syndrome and wolf-hirschhorn syndrome. Affiliated tissues include heart, and related phenotypes are hypertelorism and short neck

Related Diseases for Chromosome 4p Duplication

Diseases related to Chromosome 4p Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 4p16.3 microduplication syndrome 11.3
2 wolf-hirschhorn syndrome 10.2
3 chromosome 4p deletion 10.2
4 hydronephrosis 10.0
5 kleeblattschaedel 10.0
6 myxedema 10.0
7 holoprosencephaly 10.0
8 epilepsy 10.0
9 focal epilepsy 10.0
10 chromosomal triplication 10.0
11 chromosome xq deletion 10.0
12 myoclonus 10.0

Graphical network of the top 20 diseases related to Chromosome 4p Duplication:



Diseases related to Chromosome 4p Duplication

Symptoms & Phenotypes for Chromosome 4p Duplication

Human phenotypes related to Chromosome 4p Duplication:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
5 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
6 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
7 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
8 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
9 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
10 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
11 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
12 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0006610
13 abnormality of the antihelix 60 33 hallmark (90%) Very frequent (99-80%) HP:0009738
14 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
15 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
16 low anterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0000294
17 abnormality of chromosome segregation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002916
18 abnormal palate morphology 33 hallmark (90%) HP:0000174
19 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
20 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
21 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
22 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
23 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
24 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
25 blepharophimosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000581
26 preaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001177
27 radial club hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0004059
28 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
29 abnormality of the dentition 60 Very frequent (99-80%)
30 malformation of the heart and great vessels 60 Occasional (29-5%)
31 abnormal hair pattern 60 Very frequent (99-80%)
32 abnormality of the palate 60 Very frequent (99-80%)

Drugs & Therapeutics for Chromosome 4p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 4p Duplication

Genetic Tests for Chromosome 4p Duplication

Anatomical Context for Chromosome 4p Duplication

MalaCards organs/tissues related to Chromosome 4p Duplication:

42
Heart

Publications for Chromosome 4p Duplication

Articles related to Chromosome 4p Duplication:

# Title Authors Year
1
Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. ( 15966060 )
2005
2
Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation. ( 15316961 )
2004
3
Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. ( 12794704 )
2003

Variations for Chromosome 4p Duplication

Expression for Chromosome 4p Duplication

Search GEO for disease gene expression data for Chromosome 4p Duplication.

Pathways for Chromosome 4p Duplication

GO Terms for Chromosome 4p Duplication

Sources for Chromosome 4p Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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