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Chromosome 1q duplications are chromosome abnormalies that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that may occur in people with chromosome 1q duplications include developmental delay and learning disabilities, slow growth and/or short stature, various birth defects (such as cleft palate or heart defect) and specific facial features (such as a small, receding jaw). Most cases are not inherited from a parent, but a person with the duplication can pass it on to his/her children. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
Symptoms of chromosome 1q duplications generally depend on the size and location of the duplication, and the genes involved. Therefore, symptoms vary. For example, people who have small duplications near the tip of the long (q) arm of chromosome 1 are often mildly affected, while those with larger duplications often have more severe learning difficulties. Children with large duplications that extend to near the center of the chromosome tend to have more severe birth defects and a shortened life expectancy.
Some of the more common features that may occur in people with a chromosome 1q duplications include:
Below is a summary of some additional features that have been reported in people with certain types of chromosome 1q duplications, according to a guide provided by Unique. Unique draws information from both the published medical literature and from a survey of members with a chromosome 1q duplication.
Duplications including material near the middle of the chromosome (centromere):
Duplications between bands 1q23-q25 and 1q41:
Large duplications between bands 1q31 and the end of the long arm:
Small duplications from band 1q4:
To read more about these signs and symptoms and additional symptoms reported in people with chromosome 1q duplication, read Unique's guide entitled 'Duplications of 1q.'
Last updated on 05-01-20
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