MCID: CHR556
MIFTS: 13

Chromosome 3q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 3q Duplication

MalaCards integrated aliases for Chromosome 3q Duplication:

Name: Chromosome 3q Duplication 53
Chromosome 3, Trisomy 3q 53 29 73
Duplication 3q 53
Trisomy 3q 53

Classifications:



External Ids:

UMLS 73 C0795809

Summaries for Chromosome 3q Duplication

NIH Rare Diseases : 53 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 omphalocele and cornelia de lange syndrome 1. 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 12)
# Related Disease Score Top Affiliating Genes
1 omphalocele 10.2
2 cornelia de lange syndrome 1 10.0
3 cornelia de lange syndrome 10.0
4 neural tube defects 10.0
5 neural tube defects, folate-sensitive 10.0
6 sacrococcygeal teratoma 10.0
7 scoliosis 10.0
8 teratoma 10.0
9 chromosomal triplication 10.0
10 dandy-walker complex 10.0
11 hypotonia 10.0
12 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 29

Anatomical Context for Chromosome 3q Duplication

MalaCards organs/tissues related to Chromosome 3q Duplication:

41
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 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
Content
Loading form....