1q21.1 duplication

Also known as

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

I would like to edit or add detail to this database entry

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

Are carriers affected?

How many are affected?

2

Support groups and organisations

Unique
Tel 01883 723356
Facebook

Known experts

No experts found

I would like to edit or add detail to this database entry

Please let us know more about you

In order to allow you to edit this form, please fill in the fields below and click submit to proceed to to the editing page.

used only if we have questions about your entry.

Share this page

Welcome to the GDUK network

If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

» If you would rather read our Newly Diagnosed section for parents and carers first click here