Fig. 1From: A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree(A) Pedigree for this three-generation family. Arrows indicate the proband. Solid circles/squares indicate individuals with a heterozygous 1p13.2 deletion. (B) Electrophoresis of gap-PCR products. The presence of an 836 bp band indicated that the corresponding individuals in the proband’s family carried the 1p13.2 deletion. (C) The accurate deletion breakpoints for the patients (I-2, II-3, II-5, III-2 and III-3), were validated by Sanger sequencing. A 1,408,072 bp deletion at 1p13.2 was identified (chr1:113,536,526–114,944,597). (D) The 1.31 Mb deletion at 1p13.2 (chr1: 113,538,670–114,937,750) of our proband was detected by chromosomal microarray analysis. (E) Schematic representation of the deletion region in our patients and those included for further analysis, with overlapping deletion regions at 1p13.2. Ideogram of chromosome 1, physical map and deleted regions are referred to their placement on the UCSC Genome Browser on Human (GRCh37/hg19).Back to article page