Distal monosomy 12p
Distal monosomy 12p
Definition
Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
Also known as 12p13.33 microdeletion syndrome, Del(12)(p13.33), distal deletion 12p, distal monosomy type 12p — per MONDO