Paternal 20q13.2q13.3 microdeletion syndrome
Paternal 20q13.2q13.3 microdeletion syndrome
Definition
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
Also known as paternal 20q13.2-q13.3 microdeletion syndrome, paternal del(20)(q13.2q13.3), paternal monosomy 20q13.2-q13.3, paternal monosomy 20q13.2q13.3 — per MONDO