17q12 microdeletion syndrome is a chromosomal condition in which a small part of chromosome 17 is missing (deleted).¹ This small deletion, also known as a microdeletion, occurs at a location on chromosome 17 called 17q12. 17q12 microdeletions typically cause loss of several genes, including the HNF1B gene.² Loss of the HNF1B gene is thought to cause some of the symptoms, but not all.^2,3

The signs and symptoms of 17q12 microdeletion syndrome varies between individuals. Some of the signs and symptoms include issues with the kidneys and urinary tract, a form of diabetes called maturity-onset diabetes of the young type 5 (MODY 5), developmental delay, intellectual disability, autism spectrum disorder as well as behavioural and psychiatric issues.^2-5 Some females with 17q12 microdeletion syndrome may also have müllerian aplasia or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, which is a birth defect that affects the female reproductive tract.¹

The 17q12 microdeletion may occur randomly (de novo) in an affected individual before birth, or it may be inherited from a parent.^1,2

Synonyms: Del(17)(q12); monosomy 17q12; chromosome 17q12 deletion syndrome; 17q12 recurrent deletion syndrome.^1,2,5

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:261265 17q12 microdeletion syndrome

ICD-11: LD44.H0 Deletions of the long arm of chromosome 17

The signs and symptoms of 17q12 microdeletion syndrome varies between individuals and may include:^1-6

• kidney and urinary tract disorders (due to abnormalities in the structure and/or function)
• developmental delays, including speech and motor delays
• intellectual disability
• autism spectrum disorder
• maturity-onset diabetes of the young (MODY 5) – a form of diabetes caused by loss of the HNF1B gene
• neuropsychiatric conditions such as attention-deficient/hyperactivity disorder, anxiety, schizophrenia, or bipolar disorder

Some individuals may also have mild facial features, such as high forehead, deep-set eyes, full cheeks, high-arched eyebrows and others.^1,5

There are also reports of abnormalities affecting the liver, eyes, pancreas, brain, genitals and body systems.^1,2 Females may also have müllerian aplasia or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, which is a birth defect that affects the female reproductive tract.¹

There may be other symptoms associated with 17q12 microdeletion syndrome that have not been listed here. Please speak to your medical team to learn more about the signs and symptoms of 17q12 microdeletion syndrome. Please speak to your medical team to learn more about the signs and symptoms of 17q12 microdeletion syndrome.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

The 17q12 microdeletion may occur randomly (de novo) in an affected individual before birth, or it may be inherited from a parent.^1,2

For most individuals with 17q12 microdeletion syndrome, the deletion occurs randomly (de novo) prior to birth and is not passed down (inherited) from their parents. In rare cases, the deletion was inherited from a parent in an autosomal dominant manner (there is a 50% chance that an affected parent will pass it to each of their children).^1,2 More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

There are no published consensus clinical diagnostic criteria for 17q12 microdeletion syndrome.¹

Diagnosis of 17q12 microdeletion syndrome may be considered based on the characteristic features of the syndrome and confirmed by genetic testing to identify the deletion of genetic material on the long arm of chromosome 17 at location q12.¹

A differential diagnosis can rule out other conditions that have similar symptoms, such as HNF1B-specific disorders, as well as other kidney conditions, other causes of maturity-onset diabetes of the young (MODY), other genetic causes of müllerian aplasia and other neurodevelopmental or neuropsychiatric disorders.¹

Please speak to your medical team to learn more about the available diagnostic pathways for 17q12 microdeletion syndrome.

There is no curative treatment for 17q12 microdeletion syndrome.¹ Treatment is targeted at managing specific symptoms and involves a multidisciplinary care team. This may include occupational therapy, speech therapy, treatment of kidney disease, treatment of MODY5, treatment of neuropsychiatric disorders as well as treatment of abnormalities associated with body organs such as genital tract, liver, eye and others.¹

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of 17q12 microdeletion syndrome may include general practitioners (GP), paediatricians, geneticists, nephrologists, endocrinologists, gastroenterologists, neurologists, cardiologists, ophthalmologists, audiologists, and psychiatrists.^1,2 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

We are not aware of any clinical care guidelines for 17q12 microdeletion syndrome in Australia or internationally. If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

We are not aware of any rare disease organisations for 17q12 microdeletion syndrome in Australia. If you are aware of any Australian organisations, please let us know via the Contribute page.

International Organisation:

17q12 Foundation (United States)

Website: https://www.chromo17q12.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

17q12 microdeletion syndrome varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on 17q12 microdeletion syndrome can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Chromosome 17q12 deletion syndrome
• National Organization for Rare Disorders (NORD): chromosome 17q12 deletion syndrome
• Unique: 17q12 microdeletions

GeneReviews®: 17q12 recurrent deletion syndrome – this information is specific for a recurrent 1.4-Mb deletion

Online Mendelian Inheritance in Man (OMIM): #614527 Chromosome 17q12 deletion syndrome

Orphanet: 17q12 microdeletion syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.