15Q11.2 Duplication

Also known as

  • DUP 15Q Syndrome

an extra piece of DNA spanning a particular region on Chromosome 15.Research suggests that this additional DNA can alter cellular function, is associated with subtle changes in brain structure, and may increase risk for autism and other neuro development disorders. Outcomes are highly variable from carrier to carrier; some individuals show no neuro development issues whereas others are severely impacted.

Condition details

Vision issues: issues ranging from Nystagmus to near sightedness. A lot of the children do require glasses. Autism spectrum disorder: a range of symptoms, Autism can be so mild that a child can function effectively with only minor behavioural issues, or it can be a serious, debilitating condition, requiring lifelong care and assistance. SPD (Sensory processing disorder): This means the body isn't able to process correctly all the information coming in from the senses. Kids with this condition can be labelled as picky, difficult, hyper, or withdrawn. ADHD (Attention deficit hyperactivity disorder): Kids with this have issues controlling themselves, are very spirited, have impulse issues, and have major issues focusing. Feeding issues: Many of the children have had feeding delays as babies and go on to either continue having feeding delays or become over eaters. Which can make them have issues with weight gain

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

Inheritance patterns

Are carriers affected?

How many are affected?

Support groups and organisations

Dr Beverly Searle
Unique
G1The Stables
Station Road West
Oxted
Surrey
RH8 9EE
UK
Tel 01883 723356
Facebook

Known experts

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