Chromosome 8q duplication

Title

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Other Names:

Duplication 8q; Trisomy 8q; 8q duplication; Duplication 8q; Trisomy 8q; 8q duplication; 8q trisomy; Partial trisomy 8q See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases

Summary Summary

Chromosome 8q duplication is a rare chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 8. The symptoms and severity depend on the size and location of the duplication, which genes are involved, and whether other chromosome abnormalities are also present. Some features only occur when a particular section of the chromosome is duplicated. Features that have been more commonly reported in people with a chromosome 8q duplication include developmental delay, learning difficulties, congenital heart defects, skeletal abnormalities, genital or urinary abnormalities, and distinctive facial features.^[1]^[2]

Most cases of chromosome 8q duplication are not inherited from a parent and occur by chance in people with no family history of chromosome abnormalities. In some cases, one parent has a rearrangement of chromosomal material, such as a balanced translocation or inversion, that increases the risk to have a child with a chromosome 8q duplication.^[1] Regardless of whether the duplication was inherited from a parent, a person with the duplication has an increased risk to have a child with a chromosome abnormality. Treatment is based on the signs and symptoms present in each person.

Last updated: 1/24/2019

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of chromosome segregation		0002916
Dimple chin	Chin butt Chin dent Chin dimple Chin skin dimple Indentation of chin [ more ]	0010751
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Global developmental delay		0001263
High forehead		0000348
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Long thorax	Long rib cage	0100818
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Short neck	Decreased length of neck	0000470
Specific learning disability		0001328
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
30%-79% of people have these symptoms
Abnormal oral frenulum morphology		0000190
Abnormality of cardiovascular system morphology		0030680
Bifid tongue	Cleft tongue Forked tongue Split tongue [ more ]	0010297
Cleft palate	Cleft roof of mouth	0000175
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Displacement of the urethral meatus		0100627
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypoplasia of penis	Underdeveloped penis	0008736
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Low-set, posteriorly rotated ears		0000368
Non-midline cleft lip		0100335
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
5%-29% of people have these symptoms
Bone cyst	Bone cysts	0012062
Brachydactyly	Short fingers or toes	0001156
Camptodactyly of finger	Permanent flexion of the finger	0100490
Deep palmar crease	Deep palm line	0006191
Myelomeningocele		0002475

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Last updated: 1/1/2021

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Organizations 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/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

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Learn More 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

Genetics Home Reference (GHR) contains information on Chromosome 8q duplication. 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 duplications of 8q.

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.
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 8q duplication. Click on the link to view a sample search on this topic.

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