MCID: CHR582
MIFTS: 29

Chromosome 3q29 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 3q29 Duplication Syndrome

MalaCards integrated aliases for Chromosome 3q29 Duplication Syndrome:

Name: Chromosome 3q29 Duplication Syndrome 57 43 44 70
Chromosome 3q29 Microduplication Syndrome 57 12 20 29 13 15
Trisomy 3q29 12 20 43 58
Microduplication 3q29 Syndrome 57 20 43
3q29 Microduplication Syndrome 43 58
3q29 Microduplication 12 43
3q29 Interstitial Microduplication 43

Characteristics:

Orphanet epidemiological data:

58
3q29 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
chromosome 3q29 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 3q29 Duplication Syndrome

MedlinePlus Genetics : 43 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 obese, 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). Affiliated tissues include eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 3q29 region.

GARD : 20 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. Treatment is directed toward the specific signs and symptoms present in each individual.

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

Drugs & Therapeutics for Chromosome 3q29 Duplication Syndrome

Search Clinical Trials , 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 29

Anatomical Context for Chromosome 3q29 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 3q29 Duplication Syndrome:

40
Eye

Publications for Chromosome 3q29 Duplication Syndrome

Articles related to Chromosome 3q29 Duplication Syndrome:

# Title Authors PMID Year
1
3q29 interstitial microduplication: a new syndrome in a three-generation family. 57
18241066 2008
2
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis. 61
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

GO Terms for Chromosome 3q29 Duplication Syndrome

Sources for Chromosome 3q29 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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