Chromosome 10, Distal Trisomy 10q

10q Partial Trisomy, Distal Trisomy 10q

Overview

Type of disease: Rare conditions

10q partial trisomy, also known as distal trisomy 10q, is a genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as a flat round face with full cheeks and a large, prominent forehead, highly arched eyebrows, or widely spaced eyes, as well as slow growth and low muscle mass. Most cases are diagnosed in infancy or early childhood. Although there is currently no cure for 10q partial trisomy there are various resources to help manage the condition and treat birth defects such as surgery to correct defects or abnormalities, physical therapy, or speech therapy. Only about 40 cases have been documented. Doctors seek help from various therapists and community services to provide support and care for families affected by 10q partial trisomy. Only about 40 cases have been documented.

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