National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 8q duplication


Other Names:
Duplication 8q; Trisomy 8q; 8q duplication; Duplication 8q; Trisomy 8q; 8q duplication; 8q trisomy; Partial trisomy 8q See More
Categories:
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

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: 7/1/2020

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

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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  1. Duplications of 8q. Unique. 2005; http://www.rarechromo.org/information/Chromosome%20%208/8q%20duplications%20FTNW.pdf.
  2. Trisomy 8q. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752. Accessed 12/20/2018.