Chromosome 1q21.1 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 1q21.1 Duplication Syndrome

MalaCards integrated aliases for Chromosome 1q21.1 Duplication Syndrome:

Name: Chromosome 1q21.1 Duplication Syndrome 56 12 52 29 13 6 15 71
1q21.1 Microduplication Syndrome 12 52 58
Trisomy 1q21.1 12 58
1q21.1 Duplication Syndrome 25
1q21.1 Microduplication 25
1q21.1 Duplication 25
Dup(1)(q21.1) 58


Orphanet epidemiological data:

1q21.1 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;


incomplete penetrance

autosomal dominant
isolated cases


chromosome 1q21.1 duplication syndrome:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course incomplete penetrance


Orphanet: 58  
Developmental anomalies during embryogenesis

Summaries for Chromosome 1q21.1 Duplication Syndrome

Genetics Home Reference : 25 1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1. Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with this condition can also have features of autism spectrum disorder. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. Expressive language skills (vocabulary and the production of speech) tend to be more impaired than receptive language skills (the ability to understand speech) in affected individuals. In childhood, 1q21.1 microduplications may also be associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD) and other behavioral problems. Psychiatric disorders such as schizophrenia or mood disorders such as anxiety or depression occur in some affected individuals, usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people with a 1q21.1 microduplication. Some individuals with a 1q21.1 microduplication are born with malformations of the heart, including a particular combination of heart defects known as tetralogy of Fallot. Less commonly, other physical malformations such as the urethra opening on the underside of the penis (hypospadias) in males, inward- and upward-turning feet (clubfeet), or misalignment of the hip joint (hip dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may also have a larger than average head size or taller than average adult stature. Some have slightly unusual facial features such as wide-set eyes or low-set ears. As adults, individuals with a 1q21.1 microduplication may be prone to develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. However, there is no particular pattern of physical abnormalities that characterizes 1q21.1 microduplications. Signs and symptoms related to the chromosomal change vary even among affected members of the same family. Some people with the duplication have no identified physical, intellectual, or behavioral abnormalities.

MalaCards based summary : Chromosome 1q21.1 Duplication Syndrome, also known as 1q21.1 microduplication syndrome, is related to alacrima, achalasia, and mental retardation syndrome and autism spectrum disorder. An important gene associated with Chromosome 1q21.1 Duplication Syndrome is DUP1Q21 (Chromosome 1q21.1 Duplication Syndrome). Affiliated tissues include heart and 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 1q21.1 region.

NIH Rare Diseases : 52 Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures ; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.

Wikipedia : 74 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome... more...

More information from OMIM: 612475

Related Diseases for Chromosome 1q21.1 Duplication Syndrome

Diseases related to Chromosome 1q21.1 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.3
2 autism spectrum disorder 10.3
3 carpal tunnel syndrome 10.2
4 tetralogy of fallot 10.2
5 hemochromatosis, type 1 10.2
6 specific language disorder 10.2
7 dyslexia 10.2
8 learning disability 10.2
9 schizophrenia 10.1
10 duodenal atresia 10.1
11 epilepsy 10.1
12 priapism 10.1

Graphical network of the top 20 diseases related to Chromosome 1q21.1 Duplication Syndrome:

Diseases related to Chromosome 1q21.1 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 1q21.1 Duplication Syndrome

Human phenotypes related to Chromosome 1q21.1 Duplication Syndrome:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
5 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
6 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
7 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
8 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
9 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
10 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
11 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
12 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
13 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
14 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
16 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
17 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
18 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
19 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
20 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
21 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
22 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
23 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
24 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
25 intellectual disability, mild 31 occasional (7.5%) HP:0001256
26 seizure 31 occasional (7.5%) HP:0001250
27 seizures 58 Occasional (29-5%)
28 specific learning disability 31 HP:0001328
29 hypoplasia of the corpus callosum 31 HP:0002079

Symptoms via clinical synopsis from OMIM:

Head And Neck Eyes:

Neurologic Behavioral Psychiatric Manifestations:

Neurologic Central Nervous System:
learning disabilities
seizures (rare)
hypoplasia of corpus callosum and cerebellar vermis
mental retardation, mild-moderate (some)

Head And Neck Face:
frontal bossing
mild dysmorphism

Growth Height:
normal height

Head And Neck Head:
macrocephaly (half of cases)

Clinical features from OMIM:


Drugs & Therapeutics for Chromosome 1q21.1 Duplication Syndrome

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight Recruiting NCT01238250

Search NIH Clinical Center for Chromosome 1q21.1 Duplication Syndrome

Genetic Tests for Chromosome 1q21.1 Duplication Syndrome

Genetic tests related to Chromosome 1q21.1 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 1q21.1 Duplication Syndrome 29

Anatomical Context for Chromosome 1q21.1 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 1q21.1 Duplication Syndrome:

Heart, Eye

Publications for Chromosome 1q21.1 Duplication Syndrome

Articles related to Chromosome 1q21.1 Duplication Syndrome:

# Title Authors PMID Year
Clinical phenotype of the recurrent 1q21.1 copy-number variant. 56
26066539 2016
1q21.1 Microduplication expression in adults. 56
23018752 2013
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 56
21792059 2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
21844811 2011
Penetrance for copy number variants associated with schizophrenia. 56
20587603 2010
Population analysis of large copy number variants and hotspots of human genetic disease. 56
19166990 2009
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 56
19029900 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. 56
18784092 2008
Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome. 61
29922639 2018
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. 61
28778789 2017

Variations for Chromosome 1q21.1 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 1q21.1 Duplication Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 31 genes: GJA5 , GJA8 GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122)copy number gain Pathogenic 625536 1:145015937-147416122
2 covers 27 genes, none of which curated to show dosage sensitivity GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326)copy number gain Pathogenic 625537 1:145103956-147220326
3 ACP6 , BCL9 , CHD1L , FMO5 , GPR89A , NBPF11 , NBPF12 , PRKAB2 , TRN-GTT9-1 , TRQ-CTG3-1 GRCh37/hg19 1q21.1-21.2(chr1:145765424-147142037)copy number gain Pathogenic 625538 1:145765424-147142037
4 subset of 14 genes: GJA5 , GJA8 GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678)copy number gain Pathogenic 625818 1:145740598-147825678
5 subset of 13 genes: GJA5 , GJA8 GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3copy number gain Pathogenic 666434 1:145804679-147735815
6 subset of 158 genes: FLG , GJA5 , GJA8 , POGZ , SF3B4 GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3copy number gain Pathogenic 225520 1:144927578-153223600

Expression for Chromosome 1q21.1 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 1q21.1 Duplication Syndrome.

Pathways for Chromosome 1q21.1 Duplication Syndrome

GO Terms for Chromosome 1q21.1 Duplication Syndrome

Sources for Chromosome 1q21.1 Duplication Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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