Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3

We describe a patient with isolated lissencephaly sequence (ILS) who had a de novo balanced translocation with breakpoint at 8p11.23 and 17p13.3. She developed infantile spasms and had severe developmental delay. There was no apparent deletion of 17p13.3 on fluorescence in situ hybridization (FISH) analysis. The breakpoint was located centromeric to the Miller–Dieker syndrome (MDS) marker (D17S379), and telomeric to the marker D17S1566, which is located centromeric to the LIS1 gene. This is the second reported case of ILS with balanced translocation. It is suspected that the breakpoint of 17p13.3 in this patient is located in the responsible gene for ILS.