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 4p duplication



Other Names:
Duplication 4p; Trisomy 4p; 4p duplication; Duplication 4p; Trisomy 4p; 4p duplication; 4p trisomy; Partial trisomy 4p See More
Categories:

Chromosome 4p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 4p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1] Although some cases occur sporadically, most are inherited from a parent who has a balanced translocation. Treatment is based on the signs and symptoms present in each person.
Last updated: 6/15/2015

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
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
0000174
Abnormality of chromosome segregation 0002916
Abnormality of the antihelix 0009738
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ]
0000670
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Low anterior hairline
Low frontal hairline
Low-set frontal hairline
[ more ]
0000294
Low-set, posteriorly rotated ears 0000368
Macrotia
Large ears
0000400
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Round face
Circular face
Round facial appearance
Round facial shape
[ more ]
0000311
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ]
0004322
Smooth philtrum 0000319
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
0000574
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
0006610
30%-79% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Scoliosis 0002650
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Blepharophimosis
Narrow opening between the eyelids
0000581
Hypospadias 0000047
Preaxial hand polydactyly
Extra thumb
0001177
Radial club hand 0004059
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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 4p 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 4p.

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 4p duplication. Click on the link to view a sample search on this topic.

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