Chromosomal Abnormalities Chromosomal duplications
15q11.2-13.1 Duplication Syndrome (Dup15q Syndrome)
IMPORTANT INFORMATION
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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.
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Contributors
This page has been co-developed with Dup15q Australia.
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Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research and Data | 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 Dup15q syndrome presenting to emergency departments.
Clinical Care Guidelines
We are not aware of any clinical care guidelines for Dup15q syndrome in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.
Synonyms
15q11q13 microduplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13
ORPHA:238446
ICD-11: LD41.E Duplications of chromosome 15
Summary
Chromosome 15q11.2-13.1 Duplication Syndrome (Dup15q Syndrome) is a chromosomal condition. It occurs when there is one or more additional (duplicate) copies of a Chromosome 15 region known as 15q11.2-13.1 or the Prader-Willi/Angelman critical region (PWACR).2,3 The duplication can be in the form of an extra chromosome (isodicentric duplication) or is a repeated region on one of the chromosome 15 (interstitial duplication).2-4 The size of the duplicated region (and the genes that are affected) can also differ between individuals.2 The duplication may be inherited, more often from the mother than the father, or may occur spontaneously (de novo).4 Maternally inherited (from the mother) duplications tend to result in severe symptoms than those paternally inherited (from the father).1,2,4 Common features of Dup15q syndrome include low muscle tone (hypotonia) in newborns, delays in motor skills, speech and language, intellectual disability, autism spectrum disorder (ASD) and seizures.1-4
Symptoms
Common features of Dup15q syndrome include low muscle tone (hypotonia) in newborns, delays in motor skills, speech and language, intellectual disability, autism spectrum disorder (ASD) and seizures.1-4
Individuals with Dup15q may have facial features such as downward slanting of the space between the eyelids (downslanting palpebral fissures), wide upper nose area (broad nasal bridge), single eyelid fold (epicanthal folds) and full lips.2-5 These features are known as dysmorphic and may not always be very noticeable.3
The symptoms and severity of Dup15q syndrome often vary between individuals. Please speak to your medical team to learn more about the symptoms and complications of Dup15q syndrome.
Cause/Inheritance
Dup15q syndrome is caused by extra copies (duplicate) of a portion of Chromosome 15 at the region 15q11.2-13.1.2-4 It is a type of chromosomal abnormality. The duplication can be in the form of an extra chromosome (isodicentric duplication) or can be located on one of the chromosome 15 (interstitial duplication).2-4 The duplication may be inherited, more often from the mother than the father, or may occur spontaneously.4
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
It is recommended that a Dup15q syndrome diagnosis be considered for children with low muscle tone at early age (early hypotonia), dysmorphic features, developmental delay, intellectual disability, autism spectrum disorder (ASD), seizures.2,3
Diagnosis of Dup15q syndrome is usually confirmed using chromosome studies such as cytogenetic karyotyping to look for large duplications or chromosome microarray analysis to identify smaller duplications (microduplications).2
Further information about the diagnostic tests can be found at:
Pathology Tests Explained: Chromosome studies
Pathology Tests Explained: Genome-wide chromosome microarray testing
Differential diagnosis (to rule out other conditions) include other chromosomal abnormalities and causes of developmental delay, intellectual disability and ASD, and seizures.2,5
Treatment
There is currently no curative treatment for Dup15q syndrome, but there are strategies to assist in the management of symptoms. This often requires a multidisciplinary medical team. Management strategies may include physical, occupational, speech and behavioural therapies, use of assistive devices such as augmentative and alternative communication tools, nutritional support and seizure management.2,3,5
Please speak with your medical team to learn more about management strategies for Dup15q syndrome and its associated symptoms. Treatment will depend on an individual’s specific symptoms.
Clinical Care
Healthcare professionals involved in the treatment of Dup15q syndrome may include general practitioners (GP), paediatricians, geneticists, neurologists, physiotherapists, speech and occupational therapists and ophthalmologists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.
Research and Data
Please visit Australian Clinical Trials to learn about clinical trials for Dup15q syndrome in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for Dup15q 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)
Dup15q Australia Ltd Australian Organisation
Website: https://www.dup15qaustralia.org.au/
Contact form: https://www.dup15qaustralia.org.au/contact-us
The mission of Dup15q Australia Ltd is to create awareness of Chromosome 15q Duplication Syndrome (Dup15q) in Australia, advocate for individuals and their families, be a source of information and support for individuals and their families, provide an outlet for families to connect with other families, promote knowledge of the condition within the medical fraternity, facilitate bi-annual national family conferences, raise funds to assist with research into the condition and possible therapeutic treatments and establish dedicated clinics for the provision of treatment and advice to individuals and families.
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Support Services/Resources
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.
Mental Health
Please visit the ‘Mental Health’ sections listed on the National and State Services pages.
Other
Further information on Dup15q syndrome can be found at:
References
- Dup15q Australia. Accessed 12 March 2023. https://www.dup15qaustralia.org.au/
- 15q11q13 microduplication syndrome. Accessed 13 March 2023. https://www.orpha.net/en/disease/detail/238446
- National Organization for Rare Disorders (NORD). Dup15q syndrome. Accessed 13 March 2023. https://rarediseases.org/rare-diseases/dup15q-syndrome
- Online Mendelian Inheritance in Man (OMIM). Chromosome 15q11-q13 duplication syndrome. Accessed 13 March 2023. https://www.omim.org/entry/608636
- Lusk L, Vogel-Farley V, DiStefano C, et al. Maternal 15q duplication syndrome. 2016. Updated 15 July 2021. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [internet]. Seattle (WA): University of Washington Seattle. 1993–2023. Accessed 13 March 2024. https://www.ncbi.nlm.nih.gov/books/NBK367946
Page Last Updated
15/04/2024 10:00
