MCID: CHR556
MIFTS: 12

Chromosome 3q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 3q Duplication

MalaCards integrated aliases for Chromosome 3q Duplication:

Name: Chromosome 3q Duplication 54
Chromosome 3, Trisomy 3q 54 30 74
Duplication 3q 54
Trisomy 3q 54

Classifications:



External Ids:

UMLS 74 C0795809

Summaries for Chromosome 3q Duplication

NIH Rare Diseases : 54 Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 3. 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 may be present in a person with a chromosome 3q duplication include distinctive facial features, hirsutism (excessive hair growth in women), small head size (microcephaly), intellectual disability, slowed growth, and abnormalities of the hands, feet, genitourinary system, kidneys, and/or heart. Various other neurologic abnormalities or birth defects affecting other parts of the body may also occur. About one third of babies with chromosome 3q duplication do not survive past the first year of life, often due to heart defects or infections. Chromosome 3q duplication can be de novo (not inherited and occurring for the first time), or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. In most cases, it occurs as part of an unbalanced translocation, which means that abnormalities of other chromosomes are also present. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 3q Duplication, also known as chromosome 3, trisomy 3q, is related to chromosomal triplication and omphalocele. Affiliated tissues include kidney and heart.

Related Diseases for Chromosome 3q Duplication

Diseases related to Chromosome 3q Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 10.5
2 omphalocele 10.2
3 cornelia de lange syndrome 1 10.0
4 cornelia de lange syndrome 10.0
5 neural tube defects 10.0
6 neural tube defects, folate-sensitive 10.0
7 sacrococcygeal teratoma 10.0
8 scoliosis 10.0
9 teratoma 10.0
10 chromosome 14q deletion 10.0
11 dandy-walker complex 10.0
12 hypotonia 10.0
13 currarino syndrome 9.9

Graphical network of the top 20 diseases related to Chromosome 3q Duplication:



Diseases related to Chromosome 3q Duplication

Symptoms & Phenotypes for Chromosome 3q Duplication

Drugs & Therapeutics for Chromosome 3q Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 3q Duplication

Genetic Tests for Chromosome 3q Duplication

Genetic tests related to Chromosome 3q Duplication:

# Genetic test Affiliating Genes
1 Chromosome 3, Trisomy 3q 30

Anatomical Context for Chromosome 3q Duplication

MalaCards organs/tissues related to Chromosome 3q Duplication:

42
Kidney, Heart

Publications for Chromosome 3q Duplication

Articles related to Chromosome 3q Duplication:

# Title Authors Year
1
Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS). ( 480006 )
1979

Variations for Chromosome 3q Duplication

Expression for Chromosome 3q Duplication

Search GEO for disease gene expression data for Chromosome 3q Duplication.

Pathways for Chromosome 3q Duplication

GO Terms for Chromosome 3q Duplication

Sources for Chromosome 3q 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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