15q11.2 Microdeletion Syndrome

Developmental anomalies Chromosomal conditions

15q11.2 Microdeletion Syndrome

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this disease, please refer to the Genetic and Rare Diseases (GARD) Information Center – 15q11.2 Microdeletion Syndrome.1

There are currently no known organisations in Australia specifically for this rare disease. If you know of any rare disease organisation/s supporting people living with 15q11.2 Microdeletion Syndrome in Australia, please let us know via the Contribute page. If you are interested in starting an Australian organisation for people living with 15q11.2 Microdeletion Syndrome, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.

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.

Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References

Emergency Management

There may be special considerations for the emergency management of individuals living with 15q11.2 Microdeletion Syndrome presenting to emergency departments.

Clinical Care Guidelines

There are no known clinical care guidelines specifically for 15q11.2 Microdeletion Syndrome in Australia.

Synonyms

15q11.2 BP1-BP2 Microdeletion Syndrome; 15q11.2 Microdeletion; Chromosome 15q11.2 Deletion; Chromosome 15q11.2 Microdeletion; Del(15)(q11.2); Monosomy 15q11.2; ORPHA:261183

Summary

15q11.2 Microdeletion Syndrome is a chromosomal condition in which a small part of chromosome 15 is missing (deleted).1 This small deletion, also known as a microdeletion, occurs at a location on chromosome 15 called 15q11.2, between two breakpoint sites called BP1 and BP2.2 It causes the absence of four known genes — NIPA1, NIPA2, TUBGCP5 and CYFIP1. This region on chromosome 15 is also affected in imprinting disorders, Prader-Willi Syndrome and Angelman Syndrome, which are caused by larger deletions of the 15q11–q13 region (involving BP1/BP2 and BP3 breakpoints).3

Every individual has two copies of chromosome 15, but a q11.2 microdeletion on one copy of chromosome 15 is sufficient to cause the symptoms and complications associated with this syndrome. However, there is a wide variation in clinical features, and not all individuals with a 15q11.2 microdeletion display symptoms (incomplete penetrance).2,3 Common signs and symptoms of 15q11.2 Microdeletion Syndrome include developmental, motor and language delays; behaviour and emotional problems; attention deficit disorders; and autism spectrum disorder.1 Other features may include facial and palate abnormalities, and seizures.1-3

Useful Links for Professionals

Online Mendelian Inheritance in Man (OMIM): #615656 Chromosome 15q11.2 Deletion Syndrome

Orphanet: 15q11.2 Microdeletion Syndrome

Human Phenotype Ontology (HPO): 15q11.2 Microdeletion Syndrome

Symptoms

It is best to speak to your medical team about your symptoms and to learn more about the symptoms and complications of 15q11.2 Microdeletion Syndrome.

 

Cause/Inheritance

A 15q11.2 microdeletion may occur randomly (de novo mutation) in an affected individual before birth, or it may be inherited from a parent.1 As some individuals with a 15q11.2 microdeletion do not display any symptoms, it is possible that a parent of an affected child may have an undetected microdeletion.

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 on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

Diagnosis of 15q11.2 Microdeletion Syndrome may be done by chromosome microarray (CMA) testing on blood samples to identify the deletion of genetic material on chromosome 15 at location q11.2.

More information about CMA testing can be found at Royal Australian College of General Practitioners (RACGP): Chromosome microarray  and Pathology Tests Explained: Genome-wide chromosome microarray testing.

Treatment

It is best to speak with your medical team to learn more about possible treatment options for 15q11.2 Microdeletion Syndrome and its associated symptoms. Treatment will depend on an individual’s specific symptoms and complications.

Clinical Care

Healthcare professionals involved in the treatment of 15q11.2 Microdeletion Syndrome may include general practitioners (GP), paediatricians and geneticists.The need for different healthcare professionals may change over a person’s lifetime and may extend beyond those listed here.

Research

Please visit Australian Clinical Trials to learn about clinical trials for 15q11.2 Microdeletion Syndrome in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for 15q11.2 Microdeletion Syndrome in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

There are currently no known rare disease organisations/s supporting people living with 15q11.2 Microdeletion Syndrome in Australia. If you are aware of any 15q11.2 Microdeletion Syndrome organisations in Australia, please let us know via the Contribute page.

Global organisation supporting 15q11.2 Microdeletion Syndrome:

Unique – Understanding Rare Chromosome and Gene Disorders
Website: https://rarechromo.org/
Email: [email protected]

Other support organisations:

Genetic Alliance Australia (GAA), Genetic Support Network of Victoria (GSNV) and Syndromes Without A Name (SWAN) Australia may be able to provide some support for families and individuals affected by an undiagnosed or rare genetic condition for which there is no disease specific organisation in Australia.

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

Support Services/Resources

Please see the National and State Services pages.

Mental Health

Please see the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on 15q11.2 Microdeletion Syndrome can be found at Unique: 15q11.2 microdeletions.

References
  1. Genetic and Rare Diseases (GARD) Information Center. 15q11.2 microdeletion. Accessed June 21, 2022. https://rarediseases.info.nih.gov/diseases/10525/15q112-microdeletion
  2. OMIM – Online Mendelian Inheritance in Man. #615656 – Chromosome 15q11.2 Deletion Syndrome. Accessed June 21, 2022. https://www.omim.org/entry/615656
  3. Butler MG. Clinical and genetic aspects of the 15q11.2 BP1-BP2 Microdeletion Disorder. J. Intellect. Disabil. Res. [Internet]. 2017; 61(6):568-579. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464369/
Page Last Updated

30/01/2023 12:00