MCID: CHR270
MIFTS: 27

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 53
Duplication 9p 53 59
Trisomy 9p 53 59
Duplication of the Short Arm of Chromosome 9 59
Trisomy of the Short Arm of Chromosome 9 59
Chromosome 9, Partial Trisomy 9p 73
Partial Trisomy 9p 53
9p Duplication 53
9p Trisomy 53

Characteristics:

Orphanet epidemiological data:

59
trisomy 9p
Prevalence: <1/1000000 (Worldwide);

Classifications:



Summaries for Chromosome 9p Duplication

NIH Rare Diseases : 53 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 hypertelorism and short neck

Related Diseases for Chromosome 9p Duplication

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 tetrasomy 9p 11.6
2 chromosome 9p deletion syndrome 11.4
3 chromosomal triplication 10.2
4 dandy-walker complex 10.1
5 hepatoblastoma 10.0
6 chromosome 14q duplication 10.0
7 dysphagia 10.0
8 insulin-like growth factor i 9.9
9 band heterotopia 9.9
10 keloids 9.9
11 chromosome 10p duplication 9.9
12 cri-du-chat syndrome 9.9
13 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
6 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
10 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105
11 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
12 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
13 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
14 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
15 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
16 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
17 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
18 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
19 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
20 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
21 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
22 sacral dimple 59 32 frequent (33%) Frequent (79-30%) HP:0000960
23 hypoplastic fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001804
24 impacted tooth 59 32 frequent (33%) Frequent (79-30%) HP:0011079
25 fingernail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100798
26 abnormal dermatoglyphics 59 Very frequent (99-80%)
27 abnormality of the pupil 59 Very frequent (99-80%)
28 abnormal pupil morphology 32 hallmark (90%) HP:0000615

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:

41
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 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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