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 53 29
Chromosome 9, Trisomy 9q 73
Partial Trisomy 9q 53
9q Duplication 53
Duplication 9q 53
9q Trisomy 53
Trisomy 9q 53

Classifications:



External Ids:

UMLS 73 C0795834

Summaries for Chromosome 9q Duplication

NIH Rare Diseases : 53 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:

# Related Disease Score Top Affiliating Genes
1 non-distal trisomy 9q 11.2
2 kleefstra syndrome 11.2
3 distal trisomy 9q 11.2
4 pyloric stenosis 10.2
5 learning disability 10.0
6 chromosomal triplication 10.0
7 chromosome 8q deletion 10.0
8 tetralogy of fallot 10.0
9 heart disease 10.0
10 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 29

Anatomical Context for Chromosome 9q Duplication

MalaCards organs/tissues related to Chromosome 9q Duplication:

41
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
Patient with partial trisomy 9q and learning disability but no pyloric stenosis. ( 14974649 )
2004
3
Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review. ( 10882757 )
2000

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 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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