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Loss of chromosome 4q
Chromosome 4q deletion is a rare chromosomal disorder that results from the absence of a portion of the long arm of chromosome 4. People with this mutation may have a prominent forehead (like a prominent hump on the forehead), a prominent back of the head, low-set ears, short, broad hands and feet, an unusually small body due to slow growth, congenital heart defects, and possibly intellectual disability. The condition occurs in approximately 1 in 100,000 people, with males and females being equally affected.
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Cardiology Pediatrics Orthopedics