MCID: CHR192
MIFTS: 17

Chromosome 12q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 12q Duplication

MalaCards integrated aliases for Chromosome 12q Duplication:

Name: Chromosome 12q Duplication 54
Chromosome 12, Trisomy 12q 74
Partial Trisomy 12q 54
12q Duplication 54
Duplication 12q 54
12q Trisomy 54
Trisomy 12q 54

Classifications:



External Ids:

UMLS 74 C0795846

Summaries for Chromosome 12q Duplication

NIH Rare Diseases : 54 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 rituximab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include b cells.

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 10.1
3 aortic coarctation 10.1
4 penis agenesis 10.1
5 mental retardation, buenos aires type 10.0
6 chylothorax, congenital 10.0
7 arachnoid cysts 10.0
8 chromosomal triplication 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
3
ofatumumab Approved Phase 2 679818-59-8 6918251
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5 Antineoplastic Agents, Immunological Phase 2
6 Antimetabolites Phase 2
7 Antimetabolites, Antineoplastic Phase 2
8 Immunosuppressive Agents Phase 2
9 Immunoglobulins Phase 2
10 Immunologic Factors Phase 2
11 Antibodies 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

MalaCards organs/tissues related to Chromosome 12q Duplication:

42
B Cells

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
A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. ( 17329177 )
2007
3
Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter). ( 16506269 )
2006
4
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
5
Prenatal diagnosis of partial trisomy 12q: clinical presentations and outcome. ( 15966037 )
2005
6
Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12. ( 14755471 )
2004

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 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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