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. 2008 May;9(3):137–146. doi: 10.2174/138920208784340795

Fig. (1).

Fig. (1)

A). Chromosome 17 karyotype from a normal and MDLS individual. B). A view of a single chromatid of chromosome 17p13.3 showing the order of the genes in this region from the centromere (Cen) to the telomere (Tel). The dotted lines denote the deletions (hemizygous) of various sizes associated with respective patients listed on the left hand side. Con-MR is a patient with a telomeric deletion. This patient exhibits mental retardation but normal stature and head circumference. ILS represents an Isolated Lissencephaly Sequence patient deleted for PAFAH1B1/Lis1 alone. ILS+ denotes Isolated Lissencephaly Sequence patients with increasing deletions telomeric from PAFAH1B1/Lis1. MDLS represents Miller-Dieker Lissencephaly.