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Genetic and Rare Diseases Information Center (GARD)

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16p11.2 deletion syndrome

Other Names for this Disease
  • Chromosome 16p11.2 deletion syndrome
  • Del(16)(p11.2)
  • Microdeletion 16p11.2
  • Monosomy 16p11.2
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Your Question

During an ultrasound at week 15 of my pregnancy, the doctor found hemivertebra. We had CGH done, and 16p11.2 deletion syndrome was found. What is the probability that this syndrome will occur in the next pregnancy? Is it inherited? My husband and I do not have relatives with autistic problems. I have a cousin with mental deficiency but the cause is not known.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is 16p11.2 deletion syndrome inherited?

Most cases of 16p11.2 deletion syndrome are not inherited and occur due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo deletion (occurring as a new genetic change for the first time in the affected individual).[1][2]

The inheritance of 16p11.2 deletion syndrome is autosomal dominant because a deletion in only one copy of chromosome 16 in each cell is sufficient to cause the condition. Although affected individuals typically have no history of the condition in their family, they can still pass the condition to their children. There have been several reported cases of the syndrome being inherited.[1] When an affected individual has children, each child has a 50% (1 in 2) risk to inherit the deletion.
Last updated: 4/16/2013

What is the risk to have a second child affected with 16p11.2 deletion syndrome?

The risk to siblings of an individual with 16p11.2 deletion syndrome depends on the deletion status of the parents (i.e. whether the deletion was inherited from an affected parent). If neither parent carries the deletion, the risk to siblings is considered to be low, but still greater than the risk in the general population. This is because theoretically, a parent may have germline mosaicism or low-level somatic mosaicism for the deletion. If a parent also has the deletion, the risk for each child of that parent to inherit the deletion is 50% (1 in 2).[2]

Individuals interested in learning more about genetic concepts, risk assessment, and/or testing for this condition should speak with a genetics professional.
Last updated: 4/16/2013

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013