Chromosome 17q deletion

Title

Other Names:

Deletion 17q; Monosomy 17q; 17q deletion; Deletion 17q; Monosomy 17q; 17q deletion; 17q monosomy; Partial monosomy 17q; Distal monosomy 17q See More

Categories:

Congenital and Genetic Diseases

Subtypes:

17q12 deletion syndrome

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1597

Definition

A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.

Visit the Orphanet disease page for more resources.

Last updated: 2/1/2019

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
Abnormal cardiac septum morphology		0001671
Abnormal form of the vertebral bodies		0003312
Abnormality of the hip bone	Abnormality of the hips	0003272
Abnormality of the metacarpal bones	Abnormality of the long bone of hand	0001163
Abnormality of the philtrum		0000288
Aplasia/Hypoplasia of the thumb	Absent/small thumb Absent/underdeveloped thumb [ more ]	0009601
Aplasia/Hypoplasia of the uvula		0010293
Bilateral single transverse palmar creases		0007598
Deviation of finger	Atypical position of finger Finger pointing in a different direction than usual [ more ]	0004097
Hepatomegaly	Enlarged liver	0002240
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Low-set, posteriorly rotated ears		0000368
Melanocytic nevus	Beauty mark	0000995
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micromelia	Smaller or shorter than typical limbs	0002983
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Narrow mouth	Small mouth	0000160
Optic atrophy		0000648
Patent ductus arteriosus		0001643
Premature birth	Premature delivery of affected infants Preterm delivery [ more ]	0001622
Prominent metopic ridge		0005487
Respiratory insufficiency	Respiratory impairment	0002093
Short stature	Decreased body height Small stature [ more ]	0004322
Short thorax	Shorter than typical length between neck and abdomen	0010306
Small hand	Disproportionately small hands	0200055
Upper limb asymmetry	Unequal size of arms	0100560
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582

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Last updated: 3/1/2020

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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 17q deletion. This website is maintained by the National Library of Medicine.

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.

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