MCID: CHR263
MIFTS: 13

Chromosome 7q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 7q Duplication

MalaCards integrated aliases for Chromosome 7q Duplication:

Name: Chromosome 7q Duplication 54
Chromosome 7, Trisomy 7q 74
Partial Trisomy 7q 54
7q Duplication 54
Duplication 7q 54
7q Trisomy 54
Trisomy 7q 54

Classifications:



External Ids:

UMLS 74 C0795821

Summaries for Chromosome 7q Duplication

NIH Rare Diseases : 54 Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. 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 7q duplication include developmental delay, intellectual disability, behavioral problems 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 7q Duplication, also known as chromosome 7, trisomy 7q, is related to glaucoma 3, primary congenital, a and hydrocephalus, congenital, 1.

Related Diseases for Chromosome 7q Duplication

Diseases related to Chromosome 7q Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 10.0
2 hydrocephalus, congenital, 1 10.0
3 agammaglobulinemia 10.0
4 chromosome 21q deletion 10.0
5 myelodysplastic syndrome 9.9
6 merkel cell carcinoma 9.9
7 chromosomal triplication 9.9
8 xp22.3 microdeletion syndrome 9.9
9 west syndrome 9.9

Graphical network of the top 20 diseases related to Chromosome 7q Duplication:



Diseases related to Chromosome 7q Duplication

Symptoms & Phenotypes for Chromosome 7q Duplication

Drugs & Therapeutics for Chromosome 7q Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 7q Duplication

Genetic Tests for Chromosome 7q Duplication

Anatomical Context for Chromosome 7q Duplication

Publications for Chromosome 7q Duplication

Articles related to Chromosome 7q Duplication:

# Title Authors Year
1
Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings. ( 23201896 )
2013
2
Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes. ( 22482977 )
2012
3
Hypogammaglobulinemia and Silver-Russell phenotype associated with partial trisomy 7q and partial monosomy 21q. ( 19161136 )
2009
4
Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH. ( 19900039 )
2009
5
Pure partial trisomy 7q: two new patients and review. ( 12407716 )
2002
6
Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q. ( 11754068 )
2001
7
Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). ( 11536263 )
2001
8
Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly. ( 11113903 )
2000

Variations for Chromosome 7q Duplication

Expression for Chromosome 7q Duplication

Search GEO for disease gene expression data for Chromosome 7q Duplication.

Pathways for Chromosome 7q Duplication

GO Terms for Chromosome 7q Duplication

Sources for Chromosome 7q 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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