Chromosome 14q11-q22 deletion syndrome
Chromosome 14q11-q22 deletion syndrome
Definition
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Also known as 14q11.2 microdeletion syndrome, chromosome 14q11-q22 deletion syndrome, chromosome 14q11-q22 deletion syndrome, isolated cases, Del(14)(q11.2), monosomy 14q11.2 — per MONDO