Distal Xq28 microduplication syndrome
Distal Xq28 microduplication syndrome
Definition
Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
Also known as distal dup(X)q(28), distal trisomy Xq28, Xq28 Microduplication — per MONDO