MCID: CHR270
MIFTS: 26

Chromosome 9p Duplication

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 9p Duplication

MalaCards integrated aliases for Chromosome 9p Duplication:

Name: Chromosome 9p Duplication 54
Duplication 9p 54 60
Trisomy 9p 54 60
Duplication of the Short Arm of Chromosome 9 60
Trisomy of the Short Arm of Chromosome 9 60
Chromosome 9, Partial Trisomy 9p 74
Partial Trisomy 9p 54
9p Duplication 54
9p Trisomy 54

Characteristics:

Orphanet epidemiological data:

60
trisomy 9p
Prevalence: <1/1000000 (Worldwide);

Classifications:



Summaries for Chromosome 9p Duplication

NIH Rare Diseases : 54 Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. 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 9p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the duplication was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a duplication. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 9p duplications. You can contact GARD if you have questions about a specific duplication on chromosome 9. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. 

MalaCards based summary : Chromosome 9p Duplication, also known as duplication 9p, is related to tetrasomy 9p and chromosome 9p deletion syndrome. Affiliated tissues include testes and eye, and related phenotypes are short neck and intellectual disability

Related Diseases for Chromosome 9p Duplication

Diseases related to Chromosome 9p Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 tetrasomy 9p 11.7
2 chromosome 9p deletion syndrome 11.4
3 chromosomal triplication 10.3
4 dandy-walker complex 10.2
5 hydrocephalus, congenital, 1 10.0
6 hepatoblastoma 10.0
7 chromosome 14q duplication 10.0
8 dysphagia 10.0
9 velocardiofacial syndrome 9.9
10 insulin-like growth factor i 9.9
11 band heterotopia 9.9
12 keloids 9.9
13 spinal muscular atrophy 9.9
14 muscular atrophy 9.9
15 47,xyy 9.9
16 chromosome 10p duplication 9.9
17 xp22.3 microdeletion syndrome 9.9
18 cri-du-chat syndrome 9.9
19 status epilepticus 9.9

Graphical network of the top 20 diseases related to Chromosome 9p Duplication:



Diseases related to Chromosome 9p Duplication

Symptoms & Phenotypes for Chromosome 9p Duplication

Human phenotypes related to Chromosome 9p Duplication:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
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 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
7 abnormal nasal morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005105
8 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0006610
9 hypoplastic toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800
10 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
11 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
12 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714
13 hypoplastic fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001804
14 abnormal pupil morphology 33 hallmark (90%) HP:0000615
15 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
16 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
17 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
18 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
19 dental crowding 60 33 frequent (33%) Frequent (79-30%) HP:0000678
20 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
21 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
22 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
23 sacral dimple 60 33 frequent (33%) Frequent (79-30%) HP:0000960
24 impacted tooth 60 33 frequent (33%) Frequent (79-30%) HP:0011079
25 fingernail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100798
26 non-midline cleft lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0100335
27 abnormal dermatoglyphics 60 Very frequent (99-80%)
28 abnormality of the pupil 60 Very frequent (99-80%)

Drugs & Therapeutics for Chromosome 9p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 9p Duplication

Genetic Tests for Chromosome 9p Duplication

Anatomical Context for Chromosome 9p Duplication

MalaCards organs/tissues related to Chromosome 9p Duplication:

42
Testes, Eye

Publications for Chromosome 9p Duplication

Articles related to Chromosome 9p Duplication:

# Title Authors Year
1
Duplication 9p and their implication to phenotype. ( 25526829 )
2014
2
Molecular cytogenetic characterization and origin of two de novo duplication 9p cases. ( 10748406 )
2000
3
Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome. ( 9600733 )
1998
4
Duplication 9p due to unequal sister chromatid exchange. ( 3585946 )
1987
5
De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells. ( 2984424 )
1985
6
Brief cytogenetic report on maternal translocation t(7;9) (p22:p13): two sibs with duplication 9p and one sib with the balanced translocation. ( 3976719 )
1985

Variations for Chromosome 9p Duplication

Expression for Chromosome 9p Duplication

Search GEO for disease gene expression data for Chromosome 9p Duplication.

Pathways for Chromosome 9p Duplication

GO Terms for Chromosome 9p Duplication

Sources for Chromosome 9p 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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