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Genetic and Rare Diseases Information Center (GARD)

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Chromosome 3q29 microduplication syndrome

Other Names for this Disease
  • Microduplication 3q29 syndrome
  • Trisomy 3q29
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Your Question

My son was recently diagnosed with this disorder. His whole life he has been sick with ear infections, sinus infections and/or pneumonia. He is only 17 years old and has had pneumonia 8 times. In March they did blood work that indicated low levels in his immunoglobulin. Is having immune problems a characteristic of this condition?

Our Answer

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

Is chromosome 3q29 microduplication syndrome associated with immune system abnormalities?

We are not aware of any reports in the medical literature of individuals with chromosome 3q29 microduplication syndrome having specific immune system abnormalities. There was one report of an affected female infant who had an emergency admission to a hospital for four different infective episodes during the first five months of life, but she was reported to be in general good health later in childhood.[1]

There is evidence that other conditions involving different types of genetic changes at chromosome 3q29 are associated with immune system abnormalities, including Riddle syndrome (in which immunodeficiency is a characteristic) and marginal zone B-cell lymphoma.[2][3] Some individuals with a chromosome 3q29 deletion reportedly have had frequent ear infections or respiratory infections (including pneumonia).[4] However, these conditions are distinct from chromosome 3q29 microduplication syndrome.
Last updated: 10/7/2013

What are the signs and symptoms of chromosome 3q29 microduplication syndrome?

The signs and symptoms of chromosome 3q29 microduplication syndrome appear to vary among affected individuals. This condition has reduced penetrance, which means that some individuals with this chromosome abnormality do not have any signs and symptoms and are clinically unaffected.[5] Developmental delay, abnormally small head size (microcephaly) and ophthalmologic (eye-related) findings seem to be the most common features.[6][5] Other signs and symptoms that have been reported in affected individuals include cardiac (heart) abnormalities; poor muscle tone (hypotonia); speech delay; craniosynostosis; high palate (roof of the mouth); dental abnormalities; conductive hearing loss (hearing loss due to mechanical problems in the outer or middle ear); musculoskeletal abnormalities; and seizures.[5]
Last updated: 6/1/2012