8p23.1 microdeletion syndrome
8p23.1 microdeletion syndrome
Definition
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
Also known as Del(8)(p23.1), monosomy 8p23.1 — per MONDO