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Disease Profile

Chromosome 17p duplication

Prevalence
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.

Unknown

Age of onset

Infancy

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ICD-10

Q92.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Duplication 17p; Trisomy 17p; 17p duplication;

Categories

Chromosome Disorders; Congenital and Genetic Diseases

Summary

Chromosome 17p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 17. 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 17p duplication include slowed growth both before and after birth; developmental delay; reduced muscle tone (hypotonia); congenital heart defects; and distinctive facial features.[1][2] Most cases are not inherited and occur randomly when the parents’ sperm or egg cells formed, or very shortly after the egg and sperm joined.[2] In some cases, the duplication is inherited from a parent with a chromosome abnormality (who may or may not have symptoms of a chromosome abnormality). Whether or not the duplication was inherited from a parent, a person with the duplication can pass it on to his or her child. Treatment is based on the signs and symptoms present in each person.

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
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Global developmental delay
0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Muscular hypotonia
Low or weak muscle tone
0001252
Short stature
Decreased body height
Small stature

[ more ]

0004322
30%-79% of people have these symptoms
Flexion contracture
Flexed joint that cannot be straightened
0001371
Generalized hirsutism
Excessive hairiness over body
0002230
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hydronephrosis
0000126
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypertonia
0001276
Hypoplasia of penis
Underdeveloped penis
0008736
Malar flattening
Zygomatic flattening
0000272
Narrow mouth
Small mouth
0000160
Polycystic kidney dysplasia
0000113
Ptosis
Drooping upper eyelid
0000508
Short neck
Decreased length of neck
0000470
Urethral stenosis
Narrowing of the urethra
0008661
Urethral valve
0010481
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose

[ more ]

0000445
5%-29% of people have these symptoms
Aortic valve stenosis
Narrowing of aortic valve
0001650
Broad eyebrow
Broad eyebrows
Flared eyebrow
Increased vertical height of eyebrow
Increased vertical thickness of eyebrow

[ more ]

0011229
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cleft palate
Cleft roof of mouth
0000175
Coarse facial features
Coarse facial appearance
0000280
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High anterior hairline
High frontal hairline
0009890
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplastic left heart
Underdeveloped left heart
0004383
Low posterior hairline
Low hairline at back of neck
0002162
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158
Patent ductus arteriosus
0001643
Prominent metopic ridge
0005487
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose

[ more ]

0000448
Scoliosis
0002650
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Smooth philtrum
0000319
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Talipes
0001883
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Thick nasal alae
0009928
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154

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

    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 17p 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 17p.

      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 17p duplication. Click on the link to view a sample search on this topic.