MCID: CHR271
MIFTS: 12

Chromosome 9q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 9q Deletion

MalaCards integrated aliases for Chromosome 9q Deletion:

Name: Chromosome 9q Deletion 20
Partial Monosomy 9q 20
9q Deletion 20
9q Monosomy 20
Deletion 9q 20
Monosomy 9q 20

Classifications:



Summaries for Chromosome 9q Deletion

GARD : 20 Chromosome 9q deletion is a chromosome abnormality that occurs when there is a missing ( deleted ) 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 deletion and which genes are involved. Features that often occur in people with chromosome 9q deletion 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 deletion 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 deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 9q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 9. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Chromosome 9q Deletion, also known as partial monosomy 9q, is related to kleefstra syndrome and myelodysplastic syndrome. An important gene associated with Chromosome 9q Deletion is PTCH1 (Patched 1). Affiliated tissues include myeloid.

Related Diseases for Chromosome 9q Deletion

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



Diseases related to Chromosome 9q Deletion

Symptoms & Phenotypes for Chromosome 9q Deletion

Drugs & Therapeutics for Chromosome 9q Deletion

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

Genetic Tests for Chromosome 9q Deletion

Anatomical Context for Chromosome 9q Deletion

MalaCards organs/tissues related to Chromosome 9q Deletion:

40
Myeloid

Publications for Chromosome 9q Deletion

Articles related to Chromosome 9q Deletion:

# Title Authors PMID Year
1
[Unbalanced subtelomic rearrangement involving 9q and 22q in a child with mental retardation and multiple congenital anomalies]. 61
24327143 2013
2
Evidence for deletion of 9q as a two-step process in chronic myeloid leukemia. 61
16207215 2005
3
NBCCS secondary to an interstitial chromosome 9q deletion. 61
15347344 2004
4
Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes. 61
14755469 2004
5
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1). 61
12210571 2002
6
Hypermethylation at 9q32-33 tumour suppressor region is age-related in normal urothelium and an early and frequent alteration in bladder cancer. 61
11313984 2001
7
The nevoid basal cell carcinoma syndrome: genetics and mechanism of carcinogenesis. 61
9095215 1997
8
Nevoid basal cell carcinoma syndrome. 61
7963674 1994

Variations for Chromosome 9q Deletion

Copy number variations for Chromosome 9q Deletion from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 39192 10 111746097 111885313 Deletion ADD3 9q deletion syndrome
2 248683 9 136600000 140273252 Deletion 9q deletion syndrome
3 249302 9 139596351 139604758 Deletion ZMYND19 9q deletion syndrome
4 249305 9 139619916 139629633 Deletion ARRDC1 9q deletion syndrome
5 249311 9 139629609 139633070 Deletion ARRDC1-AS1 9q deletion syndrome
6 249315 9 139633264 139850399 Deletion EHMT1 9q deletion syndrome
7 249342 9 139892061 140136452 Deletion CACNA1B 9q deletion syndrome

Expression for Chromosome 9q Deletion

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

Pathways for Chromosome 9q Deletion

GO Terms for Chromosome 9q Deletion

Sources for Chromosome 9q Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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