Chromosome 3q29 microduplication syndrome

What is chromosome 3q29 microduplication syndrome?

Chromosome 3q29 microduplication syndrome is a rare chromosome abnormality characterized by having an extra copy of material (duplication) on a specific part of the long arm of chromosome 3. The signs and symptoms vary among affected individuals, but the most common features include mild or moderate intellectual disability and microcephaly. The condition may occur for the first time in the affected individual (de novo) or it can be inherited from a mildly affected or apparently normal parent. Treatment is directed toward the specific signs and symptoms present in each individual.

Last updated on 05-01-20

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.

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. Some individuals with a chromosome 3q29 deletion reportedly have had frequent ear infections or respiratory infections (including pneumonia). However, these conditions are distinct from chromosome 3q29 microduplication syndrome.

Last updated on 05-01-20

What is the prognosis for chromosome 3q29 microduplication syndrome?

The prognosis for chromosome 3q29 microduplication syndrome varies depending on the presence and severity of signs and symptoms in each affected individual. Because microduplications have only more recently been diagnosed due to improving technology, it is not known with certainty what the long term affects are. Those who have no birth defects and are generally healthy likely will have a normal life expectancy, while individuals who are more severely affected may experience various complications.

Last updated on 05-01-20

Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom
Phone: +44 (0)1883 723356 Email: Url:
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: Url:

Connect with other users with Chromosome 3q29 microduplication syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App