/partial deletion of the long arm of chromosome 4

partial deletion of the long arm of chromosome 4

Rare Disease

MONDO:0016903

Also Known As

partial deletion of chromosome 4qpartial deletion of the long arm of chromosome type 4partial monosomy of chromosome 4qpartial monosomy of the long arm of chromosome 44q deletion4q monosomychromosome 4q deletiondeletion 4qmonosomy 4qpartial monosomy 4q

Definition

Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.