Chromosome 17q23.1-q23.2 deletion syndrome
Chromosome 17q23.1-q23.2 deletion syndrome
Definition
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Also known as 17q23.1q23.2 microdeletion syndrome, chromosome 17q23.1-q23.2 deletion syndrome, chromosome 17q23.1-q23.2 deletion syndrome, isolated cases, Del(17)(q23.1q23.2), monosomy 17q23.1-q23.2, monosomy 17q23.1q23.2 — per MONDO