Chromosome 9p deletion

Title

Other Names:

Deletion 9p; Monosomy 9p; 9p deletion; Deletion 9p; Monosomy 9p; 9p deletion; 9p monosomy; Partial monosomy 9p See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases

Summary Summary

Chromosome 9p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 9. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include developmental delay, low muscle tone (hypotonia), distinctive facial features, heart conditions, scoliosis, and/or genital abnormalities. Chromosome testing of both parents can provide more information on whether the deletion was inherited. In about half of cases, the deletion occurs sporadically and neither parent has a chromosome abnormality. In the other half, one parent is found to have the same deletion (possibly with no features) or a balanced translocation (which usually does not cause any features).^[1] Treatment for chromosome 9p deletion is based on the signs and symptoms in each person.

This page is meant to provide general information about 9p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 9p. To learn more about chromosome abnormalities, please visit our GARD webpage on FAQs about Chromosome Disorders.

Last updated: 5/24/2018

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 the antihelix		0009738
Anotia		0009892
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Blepharophimosis	Narrow opening between the eyelids	0000581
Brachycephaly	Short and broad skull	0000248
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
Global developmental delay		0001263
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Long philtrum		0000343
Low posterior hairline	Low hairline at back of neck	0002162
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Malar flattening	Zygomatic flattening	0000272
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Proximal placement of thumb	Attachment of thumb close to wrist	0009623
Short neck	Decreased length of neck	0000470
Thin nail	Thin nails	0001816
Trigonocephaly	Triangular skull shape Wedge shaped skull [ more ]	0000243
Webbed neck	Neck webbing	0000465
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610
30%-79% of people have these symptoms
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ]	0000164
Abnormality of the tarsal bones	Abnormal ankle bones	0001850
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Hypertonia		0001276
Hypospadias		0000047
Limitation of joint mobility	Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ]	0001376
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
Narrow mouth	Small mouth	0000160
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Scoliosis	Abnormal curving of the spine	0002650
Seizures	Seizure	0001250
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Synophrys	Monobrow Unibrow [ more ]	0000664
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology		0030680
Abnormality of the ribs	Rib abnormalities	0000772
Agenesis of corpus callosum		0001274
Atresia of the external auditory canal	Absent ear canal	0000413
Bilateral single transverse palmar creases		0007598
Calvarial skull defect	Cranial defect Skull defect [ more ]	0001362
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Cleft palate		0000175
Congenital diaphragmatic hernia		0000776
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Microphthalmia	Abnormally small eyeball	0000568
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Ureteropelvic junction obstruction		0000074

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

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/

Do you know of an organization? We want to hear from you.

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 9p deletion. 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 9p deletions.

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 9p deletion. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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