MCID: CHR272
MIFTS: 15

Chromosome 9q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 9q Duplication

MalaCards integrated aliases for Chromosome 9q Duplication:

Name: Chromosome 9q Duplication 54 30
Chromosome 9, Trisomy 9q 74
Partial Trisomy 9q 54
9q Duplication 54
Duplication 9q 54
9q Trisomy 54
Trisomy 9q 54

Classifications:



External Ids:

UMLS 74 C0795834

Summaries for Chromosome 9q Duplication

NIH Rare Diseases : 54 Chromosome 9q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) 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 9q 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 9q 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 9q Duplication, also known as chromosome 9, trisomy 9q, is related to non-distal trisomy 9q and kleefstra syndrome. Affiliated tissues include testes and heart.

Related Diseases for Chromosome 9q Duplication

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 non-distal trisomy 9q 11.3
2 kleefstra syndrome 11.3
3 distal trisomy 9q 11.3
4 chromosomal triplication 10.4
5 pyloric stenosis 10.2
6 tooth agenesis 10.1
7 learning disability 10.1
8 chromosome 8q deletion 10.1
9 tetralogy of fallot 10.0
10 heart disease 10.0
11 chromosome 9 inversion 10.0

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



Diseases related to Chromosome 9q Duplication

Symptoms & Phenotypes for Chromosome 9q Duplication

Drugs & Therapeutics for Chromosome 9q Duplication

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

Genetic Tests for Chromosome 9q Duplication

Genetic tests related to Chromosome 9q Duplication:

# Genetic test Affiliating Genes
1 Chromosome 9q Duplication 30

Anatomical Context for Chromosome 9q Duplication

MalaCards organs/tissues related to Chromosome 9q Duplication:

42
Testes, Heart

Publications for Chromosome 9q Duplication

Articles related to Chromosome 9q Duplication:

# Title Authors Year
1
Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report. ( 24783653 )
2014
2
Adult case of partial trisomy 9q. ( 20158889 )
2010
3
Partial trisomy 9q due to maternal 9q 17q translocation. ( 18695283 )
2008
4
Oligodontia in partial trisomy 9q syndrome. ( 17375539 )
2006
5
Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1. ( 16440884 )
2005
6
Patient with partial trisomy 9q and learning disability but no pyloric stenosis. ( 14974649 )
2004
7
Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review. ( 10882757 )
2000
8
Partial trisomy 9q-in a polymalformed new-born infant. Karyotype: 47,XX, + del (9) (q33). ( 742362 )
1978

Variations for Chromosome 9q Duplication

Expression for Chromosome 9q Duplication

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

Pathways for Chromosome 9q Duplication

GO Terms for Chromosome 9q Duplication

Sources for Chromosome 9q 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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