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Disease Profile
Chromosome 1q21.1 duplication syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Infancy
ICD-10
Q92.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
1q21.1 microduplication syndrome
Categories
Chromosome Disorders; Congenital and Genetic Diseases
Summary
1q21.1 microduplication is a chromosomal change in which a small amount of
Some people with a 1q21.1 microduplication have
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, inwardand 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.
This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
30%-79% of people have these symptoms | ||
Frontal bossing | 0002007 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
5%-29% of people have these symptoms | ||
Arthrogryposis multiplex congenita | 0002804 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
0000717 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
0000501 | ||
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Hip dysplasia | 0001385 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypertonia | 0001276 | |
Hypospadias | 0000047 | |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
Muscular |
Low or weak muscle tone
|
0001252 |
Schizophrenia | 0100753 | |
0001250 | ||
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Tetralogy of Fallot | 0001636 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
0003829 | ||
Specific learning disability | 0001328 | |
Sporadic |
No previous family history
|
0003745 |
Cause
Individuals who are interested in genetic testing for themselves or family members should speak with a genetics professional.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Simons Searchlight
Toll-free: +1-855-329-5638
Fax: +1-570-214-7327
E-mail: [email protected]
Website: https://www.simonssearchlight.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus Genetics contains information on Chromosome 1q21.1 duplication syndrome. This website is maintained by the National Library of Medicine.
- Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 1q21.1 microduplications.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 1q21.1 duplication syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Brunetti-Pierri N, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12):1466-71.
- Mefford HC, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008 Oct 16;359(16):1685-99.
References
- 1q21.1 Microduplications. Unique. June 2011; https://www.rarechromo.org/information/Chromosome%20%201/1q21.1%20microduplications%20FTNW.pdf. Accessed 8/15/2013.
- Chromosomal duplication. Genetics Home Reference. August 12, 2013; https://ghr.nlm.nih.gov/handbook/illustrations/chromosomalduplication. Accessed 8/15/2013.
- Hamoush A. Chromosome 1q21.1 duplication syndrome. OMIM. June 10, 2009; https://www.ncbi.nlm.nih.gov/omim/612475. Accessed 11/4/2010.
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