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1q duplications

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Other Names: Partial trisomy 1q; Partial trisomy of the long arm of chromosome 1; Partial trisomy of chromosome 1q; Partial duplication of chromosome 1q; Partial duplication of the long arm of chromosome 1

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.

NIH genetic and rare disease info

1q duplications is a rare disease.

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