MCID: CHR582
MIFTS: 33

Chromosome 3q29 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Chromosome 3q29 Duplication Syndrome

MalaCards integrated aliases for Chromosome 3q29 Duplication Syndrome:

Name: Chromosome 3q29 Duplication Syndrome 57 42 43 71
Chromosome 3q29 Microduplication Syndrome 57 11 19 28 12 14
Trisomy 3q29 11 19 42 58
Microduplication 3q29 Syndrome 57 19 42
3q29 Microduplication Syndrome 42 58
3q29 Microduplication 11 42
3q29 Interstitial Microduplication 42

Characteristics:


Inheritance:

Chromosome 3q29 Duplication Syndrome: Autosomal dominant 57
3q29 Microduplication Syndrome: Autosomal dominant 58

Age Of Onset:

3q29 Microduplication Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 3q29 Duplication Syndrome

MedlinePlus Genetics: 42 3q29 microduplication syndrome (also known as 3q29 duplication syndrome) is a condition that results from the copying (duplication) of a small piece of chromosome 3 in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q29.The features associated with 3q29 microduplication syndrome vary widely. Some individuals with this chromosomal change have very mild or no related signs and symptoms, and the duplication is discovered because they undergo genetic testing only after a family member is diagnosed. Other people with a 3q29 microduplication have delayed development (particularly speech delay) and intellectual disability or learning difficulties. Although most affected individuals have no major birth defects, eye abnormalities, heart defects, and an unusually small head (microcephaly) can occur. 3q29 microduplication syndrome may increase the likelihood of being overweight or having obesity, although it is hard to determine whether these weight issues are caused by the duplication.

MalaCards based summary: Chromosome 3q29 Duplication Syndrome, also known as chromosome 3q29 microduplication syndrome, is related to chromosome 3q29 deletion syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Chromosome 3q29 Duplication Syndrome is DUP3Q29 (Chromosome 3q29 Microduplication Syndrome), and among its related pathways/superpathways is 3q29 copy number variation syndrome. Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and global developmental delay

GARD: 19 Chromosome 3q29 microduplication syndrome is a rare chromosome abnormality characterized by having an extra copy of material (duplication) on a specific part of the long arm of chromosome 3. The signs and symptoms vary among affected individuals, but the most common features include mild or moderate intellectual disability and microcephaly. The condition may occur for the first time in the affected individual (de novo) or it can be inherited from a mildly affected or apparently normal parent.

Orphanet: 58 3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.

Disease Ontology: 11 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 3q29 region.

More information from OMIM: 611936

Related Diseases for Chromosome 3q29 Duplication Syndrome

Graphical network of the top 20 diseases related to Chromosome 3q29 Duplication Syndrome:



Diseases related to Chromosome 3q29 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 3q29 Duplication Syndrome

Human phenotypes related to Chromosome 3q29 Duplication Syndrome:

58 30 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Very rare (1%) Frequent (79-30%)
HP:0001249
2 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
3 abnormality of the dentition 58 30 Frequent (33%) Frequent (79-30%)
HP:0000164
4 microcephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0000252
5 obesity 58 30 Very rare (1%) Frequent (79-30%)
HP:0001513
6 downslanted palpebral fissures 58 30 Very rare (1%) Frequent (79-30%)
HP:0000494
7 hypotonia 30 Frequent (33%) HP:0001252
8 macrocephaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0000256
9 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
10 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
11 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
12 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
13 wide nasal bridge 58 30 Very rare (1%) Occasional (29-5%)
HP:0000431
14 biparietal narrowing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004422
15 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
16 low-set ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000369
17 sandal gap 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001852
18 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
19 microphthalmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000568
20 deep philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002002
21 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
22 high forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000348
23 sclerocornea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000647
24 large fontanelles 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000239
25 craniosynostosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001363
26 toe syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001770
27 ectopic anus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004397
28 aniridia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000526
29 camptodactyly of toe 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001836
30 seizure 30 Occasional (7.5%) HP:0001250
31 pes planus 30 Very rare (1%) HP:0001763
32 short nose 30 Very rare (1%) HP:0003196
33 low posterior hairline 30 Very rare (1%) HP:0002162
34 long face 30 Very rare (1%) HP:0000276
35 bulbous nose 30 Very rare (1%) HP:0000414
36 blepharophimosis 30 Very rare (1%) HP:0000581
37 round face 30 Very rare (1%) HP:0000311
38 multiple palmar creases 30 Very rare (1%) HP:0006114
39 seizures 58 Occasional (29-5%)
40 muscular hypotonia 58 Frequent (79-30%)
41 short palpebral fissure 30 HP:0012745
42 abnormally large globe 30 HP:0001090

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Nose:
wide nasal bridge
short nose
bulbous nose
broad nasal bridge

Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Eyes:
downslanting palpebral fissures
short palpebral fissures
large eyes

Skeletal Hands:
excessive hand creases

Skeletal Feet:
pes planus

Growth Weight:
obesity

Head And Neck Face:
long face
round face

Neurologic Central Nervous System:
mental retardation, mild to moderate
cognitive delay

Laboratory Abnormalities:
1.61- and 1.76-mb microduplication of 3q29

Clinical features from OMIM®:

611936 (Updated 24-Oct-2022)

Drugs & Therapeutics for Chromosome 3q29 Duplication Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Behavioral, Molecular and Genetic Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome Recruiting NCT02447861

Search NIH Clinical Center for Chromosome 3q29 Duplication Syndrome

Cochrane evidence based reviews: chromosome 3q29 duplication syndrome

Genetic Tests for Chromosome 3q29 Duplication Syndrome

Genetic tests related to Chromosome 3q29 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 3q29 Microduplication Syndrome 28

Anatomical Context for Chromosome 3q29 Duplication Syndrome

Organs/tissues related to Chromosome 3q29 Duplication Syndrome:

MalaCards : Eye, Heart

Publications for Chromosome 3q29 Duplication Syndrome

Articles related to Chromosome 3q29 Duplication Syndrome:

(show all 14)
# Title Authors PMID Year
1
3q29 interstitial microduplication: a new syndrome in a three-generation family. 62 57
18241066 2008
2
3q29 microduplication syndrome: Clinical and molecular description of eleven new cases. 62
33039685 2020
3
Phenotype Heterogeneity in 3q29 Microduplication Syndrome. 62
32874693 2020
4
An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome. 62
32269882 2020
5
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. 62
31311986 2019
6
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region. 62
29501613 2018
7
3q29 microduplication in a small family with complex metabolic phenotype from Southern Italy. 62
29306918 2018
8
A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes. 62
30263904 2018
9
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings. 62
27295195 2017
10
[Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes]. 62
26350776 2015
11
Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome. 62
24838842 2014
12
[3q29 microduplication syndrome]. 62
21982553 2011
13
Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity. 62
21108391 2010
14
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis. 62
16353244 2006

Variations for Chromosome 3q29 Duplication Syndrome

Expression for Chromosome 3q29 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 3q29 Duplication Syndrome.

Pathways for Chromosome 3q29 Duplication Syndrome

Pathways related to Chromosome 3q29 Duplication Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.72 RNF168 FBXO45 DYNLT2B CEP19

GO Terms for Chromosome 3q29 Duplication Syndrome

Sources for Chromosome 3q29 Duplication Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....