MCID: CHR248
MIFTS: 25

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 53
Duplication 4p 53 59
Trisomy 4p 53 59
Duplication of the Short Arm of Chromosome 4 59
Trisomy of the Short Arm of Chromosome 4 59
Chromosome 4, Trisomy 4p 73
Partial Trisomy 4p 53
4p Duplication 53
4p Trisomy 53

Classifications:



External Ids:

Orphanet 59 ORPHA1738
UMLS via Orphanet 74 C2931570 C2931571
MESH via Orphanet 45 C537643
ICD10 via Orphanet 34 Q92.2
UMLS 73 C2931571

Summaries for Chromosome 4p Duplication

NIH Rare Diseases : 53 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 14)
# Related Disease Score Top Affiliating Genes
1 4p16.3 microduplication syndrome 11.2
2 wolf-hirschhorn syndrome 10.2
3 chromosome 4p deletion 10.2
4 cornelia de lange syndrome 1 10.0
5 hydronephrosis 10.0
6 cornelia de lange syndrome 10.0
7 chromosomal triplication 10.0
8 kleeblattschaedel 10.0
9 myxedema 10.0
10 holoprosencephaly 10.0
11 epilepsy 10.0
12 focal epilepsy 10.0
13 chromosome xq deletion 10.0
14 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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
6 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
7 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
8 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
11 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
16 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
17 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
18 abnormality of the antihelix 59 32 hallmark (90%) Very frequent (99-80%) HP:0009738
19 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
20 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
21 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
22 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
23 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
24 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
25 abnormality of chromosome segregation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002916
26 radial club hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0004059
27 abnormality of the dentition 59 Very frequent (99-80%)
28 malformation of the heart and great vessels 59 Occasional (29-5%)
29 abnormal hair pattern 59 Very frequent (99-80%)
30 abnormality of the palate 59 Very frequent (99-80%)
31 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
32 abnormal palate morphology 32 hallmark (90%) HP:0000174

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:

41
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 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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