22q11.2 duplication

Also known as

Tiny extra bit of chromosome 22. Any effects of having this extra bit of chromosome 22 appear to be generally mild and highly variable, even within the same family.

Condition details

People can have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone. Many people with the duplication have no apparent physical or learning difficulties or disabilities. The effect of genetic conditions such as a 22q11.2 duplication on development, health and behaviour ranges from being barely perceptible to being obvious and severe.

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Photos of affected individuals

Click images to enlarge.

  • 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
  • Can manifest in Toddler
  • Can manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Differences in heart structure or function; A problem with the roof of the mouth known as velopharyngeal insufficiency
  • with or without a cleft (split) in the palate; hearing loss; growth delay; developmental delay; need for support with learning  Behaviour issues  Some unusual facial features
Toddler
Lay terms Clinical terms
  • Differences in heart structure or function; A problem with the roof of the mouth known as velopharyngeal insufficiency
  • with or without a cleft (split) in the palate; hearing loss; growth delay; developmental delay; need for support with learning
Child 4-10
Lay terms Clinical terms
  • Differences in heart structure or function; A problem with the roof of the mouth known as velopharyngeal insufficiency
  • with or without a cleft (split) in the palate; hearing loss; growth delay; developmental delay; need for support with learning
Child 10-18
Lay terms Clinical terms
  • Differences in heart structure or function; A problem with the roof of the mouth known as velopharyngeal insufficiency
  • with or without a cleft (split) in the palate; hearing loss; growth delay; developmental delay; need for support with learning
Adult
Lay terms Clinical terms
  • Differences in heart structure or function; A problem with the roof of the mouth known as velopharyngeal insufficiency
  • with or without a cleft (split) in the palate; hearing loss; growth delay; developmental delay; need for support with learning

Affected genes identified to date

Inheritance patterns

Are carriers affected?

How many are affected?

Support groups and organisations

Unique Rare Chromosome Disorder Support Group
Tel +44(0)1883 723356
Facebook

Known experts

No experts found

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