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Chromosome 10p deletion

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Chromosome 10p deletion, as the name suggests, is a  that occurs when there is a missing (deleted) copy of  on the short arm (p) of  chromosome 10.

Signs and symptoms

The severity and the signs and symptoms depend on the size and location of the deletion and which  are involved. Features may affect many parts of the body and may include low birth weight, growth delay, low muscle tone, and communication difficulties, various medical problems, and/or distinctive facial features may also be present.

Pathophysiology

Most 10p deletions are not  and occur randomly during the formation of egg or sperm , or very early in fetal development. Some 10p deletions are present because a parent has a rearrangement of genetic material on his/her chromosomes. This rearrangement is usually a , which typically does not cause any health problems. In some cases, a parent has the same deletion as the child.

Screening

Chromosome testing of both parents can provide information about whether the deletion was inherited.

Treatment

Treatment for chromosome 10p deletion is based on the signs and symptoms in each person.

NIH genetic and rare disease info

Chromosome 10p deletion is a rare disease.

Template:Smith-Magenis syndrome

 

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