What is Dup15q Syndrome?
Dup15q Syndrome (Chromosome 15q11.2-13.1 Duplication Syndrome) arises from the duplication of a segment on the long arm of chromosome 15. This region contains genes that play a central role in brain development. When this genetic material is present in duplicate, it leads to wide-ranging effects on development and health.
Forms of Duplication
There are two main forms:
- Interstitial duplication — The additional material sits within chromosome 15. This form is inherited from a parent and often leads to milder symptoms.
- Isodicentric duplication (idic(15)) — An extra, small chromosome forms from the duplicated material. This form is generally more severe and usually arises spontaneously (de novo).
Symptoms
The effects of Dup15q Syndrome vary widely from child to child. Common symptoms include:
- Autism spectrum disorder — In approximately 85% of those affected
- Epilepsy — Often difficult to treat; infantile spasms are common
- Muscle hypotonia — Low muscle tone affecting motor function and posture
- Developmental delay — In motor skills, language, and cognitive development
- Speech disorders — Many children are non-verbal or severely limited in speech
- Behavioural differences — Sensory hypersensitivity, sleep disturbances
Diagnosis
Dup15q Syndrome is frequently diagnosed late. Many children receive individual diagnoses such as autism or epilepsy before a genetic test (chromosomal microarray or FISH analysis) reveals the duplication on chromosome 15.
Emilia received her diagnosis after a long journey through various assessments — an experience shared by many affected families.
Dup15q Deutschland e.V.
The association Dup15q Deutschland e.V. advocates for affected families in Germany:
- Networking — Affected families connect and share experiences with one another
- Research — Support for scientific projects to better understand the syndrome
- Awareness — Public outreach so that Dup15q Syndrome becomes better known and can be diagnosed more quickly
The association is an important resource for everyone confronted with Dup15q Syndrome — whether as parents, doctors, or therapists.