Deletion of chromosome 13Q (14.1;21.2)

Also known as

  • Partial deletion of chromosome 13q

Can cause Retinoblastoma, development delays, learning difficulties

Condition details

Deletion of chromosome 13q(14.1;21.2) describes a rare genetic condition where part of the long arm (q arm) of one chromosome 13 is missing or deleted. The piece missing is between band 14.1 and band 21.2. This chromosome region includes a gene called RB1, which is associated withe the condition retinoblastoma.

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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


Lay terms Clinical terms
  • Eye cancer
  • retinoblastoma

Affected genes identified to date

  • RB1

Inheritance patterns

Are carriers affected?

How many are affected?

Support groups and organisations

Tel 01883 723356

Known experts

No experts found

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