MCID: CHR248
MIFTS: 26

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 52
Duplication 4p 52 58
Trisomy 4p 52 58
Duplication of the Short Arm of Chromosome 4 58
Trisomy of the Short Arm of Chromosome 4 58
Chromosome 4, Trisomy 4p 71
Partial Trisomy 4p 52
4p Duplication 52
4p Trisomy 52

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C537643
ICD10 via Orphanet 33 Q92.2
UMLS via Orphanet 72 C2931570 C2931571
Orphanet 58 ORPHA1738
UMLS 71 C2931571

Summaries for Chromosome 4p Duplication

NIH Rare Diseases : 52 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 chromosomal triplication. Affiliated tissues include heart and eye, and related phenotypes are hypertelorism and short neck

Related Diseases for Chromosome 4p Duplication

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:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
6 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
9 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
10 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
11 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
12 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
13 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
14 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
15 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
16 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
17 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
18 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
19 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
20 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
21 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
22 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
23 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
24 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
25 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
26 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
27 radial club hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0004059
28 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
29 abnormality of the dentition 58 Very frequent (99-80%)
30 malformation of the heart and great vessels 58 Occasional (29-5%)
31 abnormal hair pattern 58 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:

40
Heart, Eye

Publications for Chromosome 4p Duplication

Articles related to Chromosome 4p Duplication:

(show top 50) (show all 74)
# Title Authors PMID Year
1
A Patient with Trisomy 4p and Monosomy 10q 61
31679386 2019
2
Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report. 61
28901405 2017
3
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW. 61
27192890 2016
4
Diaphragm myoclonus followed by generalised atonia in a patient with trisomy 4p: unusual semiology in an unusual condition. 61
26620821 2015
5
Pica in a Four-Year-Old Girl with Global Developmental Delay. 61
26468937 2015
6
[Prenatal diagnosis of a case with combined Wolf-Hirschhorn syndrome and Jacobsen syndrome]. 61
26252097 2015
7
4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization. 61
25769226 2015
8
De novo case of a partial trisomy 4p and a partial monosomy 8p. 61
24851635 2014
9
Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation. 61
25632983 2014
10
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family. 61
23894085 2013
11
Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review. 61
23639048 2013
12
Two cases of partial trisomy 4p and partial trisomy 14q. 61
23301226 2013
13
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. 61
22821638 2012
14
[Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization]. 61
22931946 2012
15
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features. 61
21815251 2011
16
Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype. 61
21412978 2011
17
Familial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype. 61
19226522 2009
18
Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16). 61
18163449 2008
19
Multiple ocular abnormalities associated with trisomy 4p. 61
18831427 2008
20
Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features. 61
18166284 2008
21
Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability. 61
18229657 2007
22
Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly? 61
15791668 2005
23
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. 61
15316961 2004
24
A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation. 61
15211659 2004
25
A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero. 61
14564156 2003
26
[Endocrine abnormalities in a child with trisomy 4P]. 61
12139874 2002
27
A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review. 61
11977183 2002
28
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region. 61
12017235 2002
29
Partial trisomy 4p and Brachmann-de Lange syndrome. 61
11186901 2000
30
Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3). 61
10985005 2000
31
Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p? 61
10756338 2000
32
[Trisomy 4p syndrome]. 61
11057241 2000
33
Cloverleaf skull anomaly and de novo trisomy 4p. 61
10353793 1999
34
[Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)]. 61
10067217 1999
35
Characterization of a derivative chromosome 17 by fish-technique. 61
8839891 1996
36
Clinical manifestations of trisomy 4p syndrome. 61
7671938 1995
37
Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14). 61
7834896 1994
38
Trisomy 4p and ocular defects. 61
8025082 1994
39
[4p trisomy secondary to paternal translocation t(4p-;15q+)]. 61
1872531 1991
40
Trisomy 4p--a new case of congenital myxedema. 61
1803487 1991
41
Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16). 61
2170065 1990
42
Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2). 61
2377354 1990
43
A third case of de novo partial trisomy 4p. 61
2732997 1989
44
[Genetics of partial trisomies. Trisomy 4p]. 61
2759441 1989
45
[Eye changes in partial trisomy 4p]. 61
3091463 1986
46
Four cases of partial trisomy 4p by preferential segregation in a familial 4p/17q balanced translocation. 61
6724587 1984
47
Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression. 61
6418421 1983
48
[Trisomy 4p. Mirror duplication of the short arm of chromosome 4 de novo]. 61
6621831 1983
49
[Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination]. 61
6855784 1983
50
The trisomy 4p syndrome: a case report. 61
7117289 1982

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

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72 UMLS via Orphanet
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