Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

Figure 3

Array CGH identified a genomic loss and gain responsible for the patient’s phenotype. (a) Patient’s photo at the age of nine. His physical features demonstrate a relative macrocephaly with a prominent forehead, sparse hair and eyebrows, prominent ears which are low set, and cup-shaped, deep set eyes with esotropia, astigmatism, and possible congenital anomaly of the left optic disc. (b) Array CGH study detected a significant copy number loss on chromosome 4 (q13.2-q21.1). (c) Array CGH study also identified a significant copy number gain on chromosome 6 (q24.3). (d) The deletion was confirmed by FISH studies using a BAC probe RP11-165D10 (red) mapped to 4q13.2 and a control probe RP11-483A2 (green) mapped to 4q25. (e) The gain was confirmed by FISH studies using a BAC probe RP11-1077K2 (red) mapped to 6q24.3 and a control probe RP11-346K8 (green) mapped to 6p21.33. Of note, D and E are the same metaphase with different probe sets to visualize both chromosomes 4 and 6. The extra red signal appears to locate on the derivative chromosome 4. (f) Genes located within the deleted region 4q13.2-q21.1 (nucleotide 67,133,352 to 77,615,947, NCBI 36/HG 18) as shown by the UCSC genome browser. (g) Genes located within the duplicated region 6q24.3 (nucleotide 146,155,718 to 148,055,364, NCBI 36/HG 18) as shown by the UCSC genome browser.