Fig. 2.

a Overview of 1 Mb at 20q13.13 chromosome region with five reported overlapping deletions in medical literature: Decipher309, Decipher265392, Decipher257542, Decipher258702, Patient01975-5515, and index-patient. Gray shadow highlights the smallest region of overlap (SRO); the proband carried the smallest 63 kb deletion at 20q13.13 chromosome region harboring two genes ADNP and DPM1. The ADNP gene in Helsmoortel–van der Aa syndrome is highlighted in yellow. b 60K array-CGH showed a 63 kb interstitial deletion at chromosome 20q13.13 containing ADNP and DPM1. c Quantitative real-time PCR showed that the deletion occurred de novo in the proband with primers in exons 1 and 5 of ADNP gene (index-patient: purple color; mother: pink color; father: blue color; pool of male control: light blue color; pool of female control: yellow color)