Chromosome 3q29 microdeletion syndrome
Chromosome 3q29 microdeletion syndrome
Definition
3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.
Also known as 3q subtelomere deletion syndrome, 3q29 microdeletion syndrome, 3qter deletion, chromosome 3q29 microdeletion syndrome, isolated cases, Del(3)(q29), monosomy 3q29, monosomy 3qter — per MONDO