Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported.<h4>Case presentation</h4>Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. This evidence concerns the gene NF1 and Global developmental delay.