Case 1. A. Pedigree of the proband and parents. A filled symbol indicates the affected individual; symbols with a dot in the middle indicate carriers. GALC genotypes are given for each individual under the respective symbol. Sequence analysis with 30-kb deletion analysis identified one copy of a five-bp deletion in exon 16 in the proband and his mother. A second mutation was not identified. Array CGH analysis was performed on the proband’s father to identify the second mutation. B. GALC array CGH results for the father. A diagram of the GALC gene is given above the results with exon numbers indicated. The father carries a deletion of exon 8 of the GALC gene. (The presence of the deletion of exon 8 in the proband is inferred, as the proband passed away before deletion/duplication analysis was performed).