Fig. 3

Intragenic tandem duplication in the PAFAH1B1 gene in a patient with isolated lissencephaly sequence. a Array-CGH results showing the log2 intensity ratios of the patient versus reference DNA. A 29-kb duplication (purple-shaded region with green dots) was detected within the PAFAH1B1 gene on chromosome 17p13.3. b Schematic representation of the duplicated region with the primer-binding sites. Long-range PCR was performed with the intron2F and intron1R primers, which yielded a 1569-bp PCR product from the patient’s genomic DNA, but not from her parents’ genomic DNA. These results indicated that the tandem duplication occurred de novo. c Sequencing analysis of the PCR product revealed region of identical sequences (28 nucleotides enclosed by black line) at the duplication junctions without additional sequence changes