1q21.1 duplication

Also known as

  • 1q21.1 microduplication

A 1q21.1 microduplication is a very rare genetic condition in which a tiny extra piece of one of the chromosomes is found in the cells of the body. The tiny extra bit increases the risk of learning and development difficulties. But there is wide individual variation. People with a 1q21.1 microduplication range from people with no symptoms to others with developmental delay and health problems.

Condition details

Fibromyalgia, reflux, neck and shoulder pain, hypomobility, unable to sit still for long , brain wanders off when trying to concentrate, unable to sleep

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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
  • 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

Baby
Lay terms Clinical terms
  • Low muscle tone
  • low set ears
  • small jaw
  • large head. rocker bottom feet
  • reflux
Toddler
Lay terms Clinical terms
  • Low muscle tone
  • speech delay
  • developmental delay
Child 4-10
Lay terms Clinical terms
  • Hyper mobility Low muscle tone Autistic tendencies
  • Macrocephaly

Affected genes identified to date

Inheritance patterns

Is Autosomal dominant

1q21.1 microduplications can be inherited from a parent, or can happen out of the blue or 'de novo' when a baby is conceived

Are carriers affected?

People with 1q21.1 microduplications may have no symptoms or may have developmental delay and health problems.

How many are affected?

Around 50 (source: Unique's guide to 1q21.1 microduplications available at www.rarechromo.org)

Support groups and organisations

Unique
Tel 01883 723356
Facebook

Known experts

No experts found

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