Case 2. 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 the 30-kb deletion in the proband and her mother. A second mutation was not identified. Array CGH analysis was performed on the proband’s father to identify the second mutation, which was confirmed in the proband. B. GALC array CGH results for the father (top), mother (middle), and proband (bottom). A diagram of the GALC gene is given above the results with exon numbers indicated. The father carries a duplication of exons 11 through 14, while the mother carries the 30-kb deletion of exons 11 through 17. The combination of the duplication and deletion in the proband yields a neutral copy number for exons 11 through 14 (boxed region), since she has two copies of those exons (both from her father and none from her mother), while exons 15 through 17 are deleted (present in only one copy from her father).