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Diseases

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 Questions Answered


2 question(s) from the public on this disease have been answered. Submit a new question.
  • My daughter has recently been diagnosed with 16p11.2 microdeletion. I have been trying to find as much information as possible on this. When was 16p11.2 first reported? Are there any places inside the US that research this deletion? Are there any reports of how this might affect her long term? She is only 18 months old and is very behind (not sitting, crawling, walking, talking). Click here for answer

  • 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. Click here for answer

Other Names for this Disease
  • Chromosome 16p11.2 deletion syndrome
  • Del(16)(p11.2)
  • Microdeletion 16p11.2
  • Monosomy 16p11.2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.