17q23.1q23.2 microdeletion syndrome

Title

Other Names:

17q23.1-q23.2 microdeletion syndrome; Del(17)(q23.1q23.2); Monosomy 17q23.1-q23.2; 17q23.1-q23.2 microdeletion syndrome; Del(17)(q23.1q23.2); Monosomy 17q23.1-q23.2; Monosomy 17q23.1q23.2; Chromosome 17q23.1-q23.2 deletion syndrome See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases

Summary Summary

17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs.^[1]^[2]

Last updated: 1/3/2013

Symptoms Symptoms

17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities.^[1]^[2] All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features.^[1]

Last updated: 1/3/2013

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
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Long fingers		0100807
Long toe	Increased length of toes Long toes [ more ]	0010511
Mild global developmental delay		0011342
Moderate global developmental delay		0011343
30%-79% of people have these symptoms
Frontal bossing		0002007
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Patent ductus arteriosus		0001643
Pulmonary arterial hypertension	Increased blood pressure in blood vessels of lungs	0002092
Short stature	Decreased body height Small stature [ more ]	0004322
5%-29% of people have these symptoms
Abnormality of epiphysis morphology	Abnormal shape of end part of bone	0005930
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Bifid nose	Indentation or clefting of the nose	0011803
Bilateral single transverse palmar creases		0007598
Blepharitis	Inflammation of eyelids	0000498
Bulbous nose		0000414
Chronic otitis media	Chronic infections of the middle ear	0000389
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Congenital contracture		0002803
Coxa magna		0003279
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
Dyspnea	Trouble breathing	0002094
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Hyperreflexia	Increased reflexes	0001347
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Limitation of joint mobility	Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ]	0001376
Long eyelashes	Increased length of eyelashes Unusually long eyelashes [ more ]	0000527
Malar flattening	Zygomatic flattening	0000272
Muscular hypotonia	Low or weak muscle tone	0001252
Narrow mouth	Small mouth	0000160
Patellar hypoplasia	Small kneecap Underdeveloped kneecap [ more ]	0003065
Pes planus	Flat feet Flat foot [ more ]	0001763
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Sacral dimple	Spinal dimple	0000960
Sandal gap	Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ]	0001852
Scoliosis		0002650
Shallow acetabular fossae		0003182
Shawl scrotum	Scrotum surrounds penis	0000049
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Widely spaced teeth	Wide-spaced teeth Widely-spaced teeth [ more ]	0000687
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape	Unusual facial appearance	0001999
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Bicuspid aortic valve	Aortic valve has two leaflets rather than three	0001647
Global developmental delay		0001263
Hypertension		0000822
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Postnatal growth retardation	Growth delay as children	0008897
Slender finger	Narrow fingers Slender fingers thin fingers [ more ]	0001238
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Sporadic	No previous family history	0003745
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762

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

Last updated: 3/1/2020

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Cause Cause

The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition.^[1]^[2]

Last updated: 1/3/2013

Inheritance Inheritance

Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family.^[1]

Last updated: 1/3/2013

Diagnosis Diagnosis

The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).^[1]

Last updated: 1/3/2013

Testing Resources

Orphanet lists international laboratories offering diagnostic testing for this condition.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

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.

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.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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 17q23.1q23.2 microdeletion syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Ballif et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12;86(3):454-61.

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References References

Morichon-Delvallez N. 17q23.1q23.2 microdeletion syndrome. Orphanet. 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261279. Accessed 1/2/2013.
Ballif et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12;86(3):454-61. .

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