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 autistic tendencies such as the inability to comprehend facial expressions and also have a lack of Theory of Mind. Some people also have seizures. 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

Baby
Lay terms Clinical terms
  • Not smiling
Toddler
Lay terms Clinical terms
  • Delayed speech communications. Delayed walking
Child 4-10
Lay terms Clinical terms
  • Severe learning disability. Unable to read and write for a long time. Misbehaving
Adult
Lay terms Clinical terms
  • Symptoms lessen and eventually their delayed development catches up with them. However
  • they may always have learning difficulties.

Affected genes identified to date

Inheritance patterns

Is Autosomal dominant

Most people do not inherit this disorder but in some cases a parent is the carrier and their children become affected

Are carriers affected?

How many are affected?

Support groups and organisations

Unique
Tel 01883 723356
Facebook

Known experts

No experts found

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