Chromosome 6pter-p24 deletion syndrome
Chromosome 6pter-p24 deletion syndrome
Definition
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Also known as 6p subtelomeric deletion syndrome, 6p25 microdeletion syndrome, chromosome 6pter-p24 deletion syndrome, chromosome 6pter-p24 deletion syndrome, isolated cases, distal deletion 6p, distal monosomy type 6p, monosomy 6p25 — per MONDO