MCID: CHR192
MIFTS: 12

Chromosome 12q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 12q Duplication

MalaCards integrated aliases for Chromosome 12q Duplication:

Name: Chromosome 12q Duplication 53
Chromosome 12, Trisomy 12q 73
Partial Trisomy 12q 53
12q Duplication 53
Duplication 12q 53
12q Trisomy 53
Trisomy 12q 53

Classifications:



External Ids:

UMLS 73 C0795846

Summaries for Chromosome 12q Duplication

NIH Rare Diseases : 53 Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. 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 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 12q Duplication, also known as chromosome 12, trisomy 12q, is related to chromosome 21q deletion and hydrocephalus, congenital, 1. The drugs Ofatumumab and rituximab have been mentioned in the context of this disorder.

Related Diseases for Chromosome 12q Duplication

Diseases related to Chromosome 12q Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 21q deletion 10.2
2 hydrocephalus, congenital, 1 10.0
3 aortic coarctation 10.0
4 chromosomal triplication 10.0
5 penis agenesis 10.0
6 mental retardation, buenos aires type 10.0
7 chylothorax, congenital 10.0
8 arachnoid cysts 10.0
9 intellectual deficit buenos-aires type 10.0

Graphical network of the top 20 diseases related to Chromosome 12q Duplication:



Diseases related to Chromosome 12q Duplication

Symptoms & Phenotypes for Chromosome 12q Duplication

Drugs & Therapeutics for Chromosome 12q Duplication

Drugs for Chromosome 12q Duplication (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ofatumumab Approved Phase 2 679818-59-8 6918251
2
rituximab Approved Phase 2 174722-31-7 10201696
3
alemtuzumab Approved, Investigational Phase 2 216503-57-0
4
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
5 Antimetabolites, Antineoplastic Phase 2
6 Antibodies Phase 2
7 Antimetabolites Phase 2
8 Immunosuppressive Agents Phase 2
9 Immunologic Factors Phase 2
10 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 HuMax-CD20 in B-Cell Chronic Lymphocytic Leukemia (B-CLL) Patients Failing Fludarabine and Alemtuzumab Completed NCT00349349 Phase 2 ofatumumab

Search NIH Clinical Center for Chromosome 12q Duplication

Genetic Tests for Chromosome 12q Duplication

Anatomical Context for Chromosome 12q Duplication

Publications for Chromosome 12q Duplication

Articles related to Chromosome 12q Duplication:

# Title Authors Year
1
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. ( 23266815 )
2013
2
Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter). ( 16506269 )
2006
3
Prenatal diagnosis of a micropenis in a male fetus with partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->ter-->qter). ( 16865745 )
2006

Variations for Chromosome 12q Duplication

Expression for Chromosome 12q Duplication

Search GEO for disease gene expression data for Chromosome 12q Duplication.

Pathways for Chromosome 12q Duplication

GO Terms for Chromosome 12q Duplication

Sources for Chromosome 12q 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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