/partial deletion of the short arm of chromosome 1

partial deletion of the short arm of chromosome 1

Rare Disease

MONDO:0016883

Also Known As

partial deletion of chromosome 1ppartial deletion of the short arm of chromosome type 1partial monosomy of chromosome 1ppartial monosomy of the short arm of chromosome 11p deletion1p monosomychromosome 1p deletiondel(1p)deletion 1ploss of chromosome 1pmonosomy 1ppartial monosomy 1p

Definition

Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. 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.