Chromosome 3p- syndrome

Disease Overview

Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.[7519][8696][8706]

Synonyms

• Del(3p) syndrome
• Chromosome 3, monosomy 3p25
• Deletion 3p25
• Telomeric monosomy 3p
• Distal 3p deletion
• Chromosome 3pter-p25 Deletion Syndrome
• 3p- syndrome
• Distal monosomy 3p
• Monosomy 3pter