16q 22.1 deletion syndrome

Also known as

A chromosome 16 deletion is a rare genetic condition in which part of the genetic material is missing that makes up chromosome 16, one of the body’s 46 chromosomes. Like most other chromosome disorders, this increases the risk of birth defects, developmental delay and learning difficulties.

Condition details

Those affected can have profound learning difficulties, severe respiratory issues caused by severe laryngomalacia, moderate conductive hearing loss as well as autism. Multiple defects caused by haploinsufficiency in a minimum of 70 different genes 5 of which are OMIM genes. Tube fed, hypertrophic obstructive cardiomyopathy, duplex kidneys, conductive hearing loss, non verbal, not walking at 4, low tone

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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

Unique
Tel 01883 723356
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Known experts

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