Uniparental disomy, paternal, chromosome 14 is a genetic disorder. It usually occurs when the embryo is being created. The condition develops because of a defect in one gene on chromosome 14. Typically, an individual receives one chromosome from each parent to create a pair. Uniparental disomy is when both chromosomes of the pair come from one single parent. The other parent does not contribute a chromosome to the pair. In most cases, uniparental disomy does not cause obvious physical effects. However, paternal uniparental disomy for chromosome 14 causes a specific condition.
The symptoms of uniparental disomy, paternal, chromosome 14 include abnormalities of the skeleton, shorter joints, differences in body structure and features, and developmental delays. The bones of the neck, ribs, and hips are the most affected. These bones will be somewhat curved. It is believed that if the individual survives breathing difficulties in the first few months of life, his or her health will improve as he or she gets older. If you or a family member has been diagnosed with uniparental disomy, paternal, chromosome 14, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 12, 2018