Chromosome 10p duplication
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Other Names: Duplication 10p; Trisomy 10p; 10p duplication; 10p trisomy; Partial trisomy 10p
Chromosome 10p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the duplication and which genes are involved. The size of the duplication can range from a tiny piece of the chromosome arm, to the entire arm.
Cause and inheritance
Some 10p duplications are not inherited and occur sporadically (randomly) when egg or sperm cells form, or shortly after the egg and sperm join together. In other cases, the duplication occurs because a parent has a chromosome rearrangement such as a balanced translocation or a pericentric inversion (neither of which usually causes health problems). A chromosome test of both parents can help determine whether the duplication was inherited, and whether future children have an increased chance to have a chromosome abnormality.
Signs and symptoms
Signs and symptoms that can be present in a person with a 10p duplication may include delay of development, motor skills, or growth; short stature; low muscle tone (hypotonia); abnormalities of the foot (such as clubfoot); cleft lip and/or cleft palate; and distinctive facial features. Other signs and symptoms may include seizures, a heart defect, or other birth defects.
Treatment Treatment is based on the signs and symptoms present in each person.
NIH genetic and rare disease info
Chromosome 10p duplication is a rare disease.
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