Chromosome 15q Duplication Syndrome (Dup15q) is a rare and largely unknown condition. It is a clinically identifiable syndrome which results from duplications of chromosome 15q 11.2-13.1.

Diagnosis is only by Genetic testing. In most cases, testing reveals a 47th chromosome made up of one or two "extra bits" of chromosome 15q. The syndrome may be hereditary or de novo (new or spontaneous). When derived maternally (inherited from the mother) individuals are likely to show more outward signs than paternal (inherited from the father) derivation. Outcomes for de novo afflictions do not appear well documented. Estimates of population affected by the syndrome range from 1 in 20,000 to as high as 1 in 5,000. Dup15q is one of the leading genetic causes of Autism Syndrome Disorder (ASD) with up to 3% of ASD sufferers diagnosed with the condition. Timing of diagnosis is varied, ranging from 3 months to 8 years of age.

 

Dup15q Australia is a registered charity which was formed in 2016 by a group of parents of "Dupers" as individuals are affectionately known. The organisation aims to grow awareness of the condition; provide social support for families; raise funds for research; grow the base of knowledge of Dup15q in the Australian medical community and one day have dedicated Dup15q clinics in hospitals around the country. 

 

 

 

As with any genetic disorder, there is a spectrum of outcomes for individuals affected by Dup15q. Common presentations include, but are not limited to:

  • Attention Deficit Disorders

  • Autism Spectrum Disorder

  • Behavioural Disorders

  • Cognitive Delays

  • Developmental Delay – Gross & Fine Motor

  • Dysmorphic Facial Features

  • Epilepsy

  • Hypotonia (low muscle tone)

  • Sensory Processing Disorders

  • Stunted Growth

  • Speech/Language Delays

What is Dup15q Syndrome?

  Symptoms

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What is Dup15q Syndrome?

By creating greater awareness of the condition amongst the general population and medical fraternity, Dup15q Australia Ltd hopes more parents seek and receive an early and accurate genetic diagnosis for their children. While the symptoms, as outlined above, are documented, the overall impact on those with Dup15q is not well known. The combination of symptoms in individuals raises questions as to the efficacy of single symptom treatments; how to combine different treatments; measurement of outcomes; and long-term development in the children. With relatively recent advances in identification of genetic disorders, there is a need for long-term data to develop our knowledge of these issues.

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