Chromosome 19q13.11 deletion syndrome

Disease Overview

Chromosome 19q13.11 deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities.[12345][12346] To date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition.[12344] Treatment is based on the signs and symptoms present in each person.[12345][12346]